Genetic Syndromes

Genetics Chromosomal defects

Single gene mutations

Autosomal dominant

Autosomal recessive

X-linked inheritance

Y-linked

Mitochondrial

Genomic imprinting

Multifactorial

Epigenetics

DNA methylation

Histone acetylation

Environmental

Infections

Toxins

Medications and Drugs

Radiation

Nutritional insufficiency

 

Section 2: Congenital Syndromes classification: system Specific Normal feature syndromes

Chromosome XXX syndrome (super female)

de la Chapelle syndrome (XX male syndrome)

Auditory Auricular syndromes

Velocardiofacial Syndrome

Auricular-Auditory-Ophthalmic-Musculoskeletal syndromes

Hemifacial microsomia

Cardiovascular syndromes

Brugada syndrome

Long QT syndrome (LQTS)

Taussig–Bing syndrome

Cardiovascular-Gastrointestinal-Pulmonary syndromes<

Heterotaxia syndrome

Cardiovascular-Gastrointestinal-Renal syndromes

Alagille syndrome (Watson-Miller syndrome) (ICD-10: Q44.7)

Cardiovascular-Cutaneous-Musculoskeletal syndromes

Arterial tortuosity syndrome

Cardiovascular-Cutaneous-Ophthalmic-Pulmonary-Urogenital syndromes

LEOPARD syndrome

Cardiovascular-Craniofacial syndromes

Aortic arch anomaly-peculiar facies-mental retardation syndrome

Asymmetric crying facies (ACF) (Cayler cardiofacial syndrome, partial unilateral facial paresis)

Cardiofacial syndrome (Cayler syndrome)

Conotruncal anomaly face syndrome (CTAF)

Cardiovascular-Endocrine-Neurologic syndromes

Malouf syndrome

Cardiovascular-Hematologic-Neurologic syndromes

Skeletal and cardiac malformations-thrombocytopenia syndrome

Cardiovascular-Neurologic syndromes

Erondu–Cymet syndrome

Microcephaly-cardiomyopathy syndrome

Cardiovascular-Sensorineural syndromes

Jervell and Lange-Nielsen syndrome (JLNS)

Craniofacial syndromes

Ablepharon macrostomia syndrome

Hall syndrome 1

Hughes syndrome (Acromegaloid facial appearance (AFA) syndrome)

Keppen–Lubinsky syndrome

Opitz trigonocephaly syndrome (C syndrome)<

Pierre Robin syndrome (PRS)

Raine syndrome (RNS) (osteosclerotic bone dysplasia)

Craniofacial-Auricular-Auditory syndromes

Abruzzo–Erickson syndrome

Pierre Robin sequence (Weissenbacher–Zweymuller syndrome (WZS))

Craniofacial-Auriculoocularar syndromes

Branchio-oculo-facial (BOF) syndrome (BOFS)

Berry syndrome (mandibulofacial dysostosis (MFD))

Craniofacial-Cardiovascular syndromes

Ritscher-Schinzel syndrome

Craniofacial-Cardiovascular-Cutaneous- Musculoskeletal-Neurologic syndromes

Chromosome 9p deletion syndrome

Congenital hypertrichosis-osteochondrodysplasia-cardiomegaly syndrome

Kabuki make-up syndrome (KMS) (Niikawa-Kuroki syndrome)

Craniofacial-Cardiovascular-Cutaneous- Musculoskeletal-Neurologic-Urogenital syndromes

Chromosome 14 trisomy syndrome

Craniofacial-Cardiovascular-Cutaneous-Neurologic syndromes

Golabi-Ito-Hall syndrome

Craniofacial-Cardiovascular-Gastrointestinal-Neurologic-Renal syndromes

German syndrome (fetal trimethadione syndrome)

Craniofacial-Cardiovascular-Musculoskeletal syndromes

Chromosome 5q duplication syndrome

Chromosome 6q deletion syndrome

Chromosome 12q duplication syndrome

Chromosome 12q duplication syndrome

Chromosome 15 trisomy

Ho–Kaufman–Mcalister syndrome

Osteopathia striata with cranial sclerosis (Fairbank disease, Voorhoeve syndrome)

Sonoda syndrome

Craniofacial-Cardiovascular-Musculoskeletal-Neurologic syndromes

Chromosome 8q deletion syndrome

Chromosome 9 trisomy syndrome

Chromosome 9q duplication syndrome

Chromosome 10q deletion syndrome

Chromosome 17p deletion syndrome

Chromosome 22 trisomy syndrome

Fetal hydantoin syndrome (FHS)

Hamel syndrome

Hunter-Fraser syndrome

Neurofaciodigitorenal (NFDR) syndrome

Noonan syndrome (Turner-like syndrome)

Pilotto syndrome

Shprintzen syndrome

Craniofacial-Cardiovascular-Musculoskeletal-Neurologic-Gastrointestinal syndromes

Chromosome 11q duplication syndrome (Jacobsen Syndrome)

Craniofacial-Cardiovascular-Musculoskeletal-Neurologic-Ocular syndromes

Chromosome 10p duplication syndrome

Ter Haar syndrome

Craniofacial-Cardiovascular-Musculoskeletal-Neurologic-Pulmonary-Renal syndromes

Chromosome 10q duplication syndrome

Chromosome 20p deletion syndrome

Craniofacial-Cardiovascular-Musculoskeletal-Neurologic-Renal syndromes

Chromosome 5p duplication syndrome

Chromosome 15q tetrasomy syndrome

Chromosome 19p duplication syndrome

Chromosome tetraploidy syndrome

Eastman-Bixler syndrome (Faciocardiorenal syndrome)

Craniofacial-Cardiovascular- Musculoskeletal-Neurologic- Urogenital syndromes

Chromosome 2q duplication syndrome

Chromosome 3q duplication syndrome

Chromosome 4q deletion syndrome

Chromosome 7p deletion syndrome

Chromosome 9p tetrasomy syndrome

Chromosome 10 ring syndrome

Chromosome 10p duplication/10q deletion syndrome

Chromosome 14q duplication syndrome

Chromosome 21 monosomy syndrome

Harrod syndrome

Craniofacial-Cardiovascular-Musculoskeletal-Urogenital syndromes

Chromosome 2 trisomy syndrome

Craniofacial- Cardiovascular-Neurologic syndromes

Cardiofaciocutaneous (CFC) syndrome

Chromosome 8p deletion syndrome

Chromosome 18q duplication syndrome

Chromosome 20q duplication syndrome

Williams syndrome (WMS, WS) (Beuren syndrome, Fanconi-Schlesinger syndrome)

Craniofacial- Cardiovascular-Neurologic-Auditory syndromes

Chromosome 6p deletion syndrome

Craniofacial- Cardiovascular-Neurologic-Gastrointestinal syndromes

Chromosome 9q duplication/Chromosome 9p deletion syndrome

Craniofacial- Cardiovascular-Neurologic-Gastrointestinal-Renal syndromes

Chromosome 18 trisomy (Edwards syndrome)

Craniofacial- Cardiovascular-Neurologic-Hematologic syndromes

Chromosome 8p deletion syndrome

Craniofacial- Cardiovascular-Neurologic-Hematologic-Pulmonary syndromes

Chromosome 21 trisomy syndrome

Craniofacial-Cardiovascular-Neurologic-Musculoskeletal-Ophthalmic-Urogenital syndromes

Chromosome 4q duplication syndrome

Chromosome 7q duplication syndrome

Craniofacial-Cardiovascular-Neurologic-Musculoskeletal-auriculoocular-Urogenital syndromes

Chromosome 8 recombinant syndrome

Craniofacial-Cardiovascular-Neurologic-Renal syndromes

Chromosome 4p deletion syndrome (Wolf-Hirschhorn syndrome (WHS))

Craniofacial-Cardiovascular-Neurologic-Ophthalmic-Urogenital-Auditory Syndromes

CHARGE (coloboma-heart disease-atresia of choanae-retarded mental development and growth-genital hypoplasia-ear abnormalities-deafness) association or syndrome

Craniofacial-Cardiovascular-Neurologic-Urogenital syndromes

Chromosome 13 trisomy syndrome (Bartholin-Patau syndrome)

Craniofacial-Cardiovascular-Renal-Urogenital syndromes

Potocki–Shaffer syndrome (PSS)

Craniofacial-Cutaneous-Endocrine-Ophthalmic syndromes

FACES syndrome

Craniofacial-Cutaneous-Gastrointestinalsyndromes

Laband syndrome

Craniofacial-Cutaneous-Musculoskeletal syndromes

Circumferential skin creases-psychomotor retardation syndrome

Cranio–lenticulo–sutural dysplasia (Boyadjiev-Jabs syndrome)

Zori–Stalker–Williams syndrome

Craniofacial-Cutaneous-Musculoskeletal-Urogenital syndromes

Dubowitz syndrome

Craniofacial-Cutaneous-Musculoskeletal-Neurologic syndromes

Coffin-Lowry syndrome (CLS) (      Coffin syndrome 2)

Craniofrontonasal syndrome (CNFS)

Craniotubular dysplasia-growth retardation-mental retardation-ectodermal dysplasia-loose skein syndrome

Hirsutism-skeletal dysplasia-mental retardation syndrome

Hypertrichosis-coarse face-brachydactyly-obesity-mental retardation syndrome

Lenz-Majewski-like syndrome (craniotubular dysplasia-growth retardation-mental retardation-ectodermal dysplasia-loose skein syndrome)

Lison syndrome

Macrocephaly-capillary malformation (M-CM)

Pollitt syndrome

Craniofacial-Cutaneous-Musculoskeletal-Neurologic-Ophthalmic syndromes

Conradi–Hünermann syndrome (X-linked dominant chondrodysplasia punctate)

Craniofacial-Cutaneous-Neurologic syndromes

Chromosome 8p duplication syndrome

Chromosome 17 ring syndrome

Growth retardation-ocular abnormalities-microcephaly-brachydactyly-oligophrenia (GOMBO) syndrome

SCARF (skeletal abnormalities, cutis laxa, craniostenosis, psychomotor retardation, facial abnormalities) syndrome

Trichodental dysplasia-microcephaly-mental retardation syndrome

Craniofacial-Cutaneous-Neurologic-Renal syndromes

Say syndrome 1

Craniofacial-Cutaneous-Neurologic-Musculoskeletal-Urogenital syndromes

Chromosome 4 ring syndrome

Craniofacial-Musculoskeletal syndromes

Acro–dermato–ungual–lacrimal–tooth syndrome

Adams–Oliver syndrome

Abducted thumbs syndrome (Christian syndrome 1)

Adducted thumb syndrome (Gareis-Mason syndrome)

Antley–Bixler syndrome

Apert syndrome

Aspartylglycosaminuria

Baller-Gerold syndrome (BGS)

Carpenter syndrome

Catel–Manzke syndrome

Chromosome 17q deletion syndrome

Escobar syndrome (Multiple pterygium syndrome)

Fairbank-Keats syndrome (osteoglophonic dysplasia)

Fanconi syndrome (SPONASTRIME (SPOndylar changes-NAsal anomaly-STRIated-MEtaphyses))

Fetal valproate syndrome (FVS)

Freeman–Sheldon syndrome (FSS) (Windmill-Vane-Hand syndrome)

Geleophysic dysplasia

Hurst syndrome

Jackson-Weiss syndrome (JWS)

Microdontia-microcephaly-short stature syndrome

Nager syndrome

Orofaciodigital (OFD) syndrome V (Thurston syndrome)

Orofaciodigital (OFD) syndrome X

Orofaciodigital (OFD) syndrome XI

Otopalatodigital (OPD) syndrome II

Pfeiffer syndrome 1

Rapadilino syndrome

Saethre-Chotzen syndrome (SCS)

Scott syndrome

Simpson-Golabi-Behmel (SGB) syndrome (SGBS) (Bulldog syndrome)

Snyder-Robinson syndrome (SRS)

Taybi syndrome (otopalatodigital (OPD) syndrome I)

Weaver syndrome

Craniofacial-Musculoskeletal-Endocrine syndromes

Chromosome 9p duplication syndrome

Chromosome 10p deletion syndrome

Craniofacial-Musculoskeletal-Endocrine-Hematologic syndromes

Van Goethem Syndrome

Craniofacial-Musculoskeletal-Neurologic syndromes

Chromosome 2p deletion syndrome

Chromosome 2q deletion syndrome

Chromosome 3p deletion syndrome

Chromosome 7q deletion syndrome

Chromosome 8p inverted duplication syndrome

Chromosome 8q duplication syndrome

Chromosome 12 ring syndrome

Chromosome 12p duplication syndrome

Chromosome 14 ring syndrome

Chromosome 14q deletion syndrome

Chromosome 17p duplication syndrome

Chromosome 18 ring syndrome

Chromosome 18p deletion syndrome

Chromosome 21q deletion syndrome

Chromosome 22 monosomy syndrome

Chromosome diploid/triploid mixoploidy syndrome

Chromosome XXXXX syndrome (chromosome X pentasomy)

Costello syndrome

Edinburgh malformation syndrome

Facial dysmorphia-hyperextensibility of joints-clinodactyly-growth retardation-mental retardation syndrome

Fetal aminopterin syndrome

Fetal aminopterin-like syndrome

Filippi syndrome

Floating-Harbor syndrome (FHS) (Pelletier-Leisti syndrome)

Fontaine syndrome (ectrodactyly-mandibulo-facial dysostosis syndrome)

Hall-Riggs syndrome

KBG syndrome

Kelly syndrome (microcephaly-digital anomalies syndrome)

Lateral meningocele syndrome

Lenz-Majewski syndrome

Macrocephaly-facial abnormalities-disproportionate tall stature-mental retardation syndrome

Marden-Walker syndrome (MWS)

Mercaptolactate-cysteine disulfiduria (MCDU)

Microcephaly-mild developmental delay-short stature-distinctive face syndrome

Microcephaly-mild mental retardation-short stature-skeletal anomalies syndrome

Oculo-auriculovertebral (OAV) dysplasia (Franceschetti-Goldenhar syndrome, Goldenhar syndrome (GS))

Orofaciodigital (OFD) syndrome VI (Juberg-Hayward syndrome, Váradi-Papp syndrome)

Orofaciodigital (OFD) syndrome I (Gorlin syndrome 1, Papillon-Léage and Psaume syndrome)

Orofaciodigital (OFD) syndrome II (Mohr syndrome)

Pfeiffer syndrome 2

Pfeiffer syndrome 3

Pitt-Rogers-Danks syndrome (PRDS)

Pterygium colli-mental retardation-digital anomalies syndrome

Radial ray defects-triangular face-telecanthus-sparse hair-dwarfism-mental retardation syndrome

Roberts syndrome (RS) (Appelt-Gerken-Lenz syndrome)

Sao Paulo MCA/MR syndrome

Say-Meyer syndrome

SC phocomelia syndrome

Smith-Fineman-Myers syndrome (SFMS)

Sotos syndrome (Nevo syndrome)

Shprintzen-Goldberg syndrome

Spinal muscular atrophy-microcephaly-mental retardation syndrome

Spondylometa-epiphyseal dysplasia-extreme short stature syndrome

Spondylometaphyseal dysplasia, X-linked

Teebi syndrome

Toriello syndrome II

Weaver-Williams syndrome

Wiedemann-Rautenstrauch (WR) syndrome

Wisconsin syndrome

Woods syndrome

Zerres syndrome

Craniofacial-Musculoskeletal-Neurologic-Auditory syndromes

Fountain syndrome

Craniofacial-Musculoskeletal-Neurologic-Auriculoocular syndromes

Genée-Wiedemann syndrome

Craniofacial-Musculoskeletal-Neurologic-Endocrine syndromes

Chromosome Xq deletion syndrome

Chudley syndrome 1

Chudley syndrome 2

Johanson-Blizzard syndrome (JBS)

Obesity-short stature-mental deficiency-hypogonadism-micropenis-finger contractures-cleft lip-palate syndrome

Craniofacial-Musculoskeletal-Neurologic-Gastrointestinal syndromes

Opitz-Kaveggia syndrome (Keller syndrome)

Craniofacial- Musculoskeletal-Neurologic- Hematologic syndromes

Cohen syndrome (Norio syndrome, Pepper syndrome)

Craniofacial- Musculoskeletal-Neurologic- Ophthalmic syndromes

Chromosome 8 trisomy syndrome

Craniofacial dysmorphism-absent corpus callosum-iris colobomas-connective tissue dysplasia syndrome

Fetal anticoagulant syndrome (DiSala syndrome)

Hallermann-Streiff syndrome (HSS) (François dyscephalia)

Orofaciodigital (OFD) syndrome VIII

Orofaciodigital (OFD) syndrome IX

Pseudoprogeria/Hallermann-Streiff syndrome (PHS)

Split foot-microphthalmia-cleft lip/palate-mental retardation syndrome

Split foot-microphthalmia-cleft lip/palate-mental retardation syndrome

syndactyly-cataracts-mental retardation syndrome

Craniofacial- Musculoskeletal-Neurologic- Ophthalmic-Gastrointestinal syndromes

Curry-Jones syndrome

Craniofacial- Musculoskeletal-Neurologic- Pulmonary syndromes

Craniofacial-Musculoskeletal-Neurologic-Renal syndromes

Distal limb deficiency-mental retardation syndrome

Craniofacial-Musculoskeletal-Neurologic-Renal-Urogenital syndromes

Malpuech syndrome

Craniofacial- Musculoskeletal-Neurologic-Urogenital syndromes

Caudal appendage-short terminal phalanges-deafness-cryptorchidism-mental retardaion syndrome

Chromosome 2p duplication syndrome

Chromosome 15 ring syndrome

Chromosome 21q tetrasomy syndrome

Chromosome triploidy syndrome

Chromosome X inversion syndrome

Malpuech syndrome

Rudiger syndrome

Ruvalcaba syndrome

Wittwer syndrome

Craniofacial-Musculoskeletal- Ophthalmic syndromes

Miller syndrome (Genee–Wiedemann syndrome)

Orofaciodigital (OFD) syndrome III (Sugarman syndrome)

Craniofacial-Musculoskeletal- Ophthalmic-Gastrointestinal syndromes

Idaho syndrome

Craniofacial-Musculoskeletal-Pulmonary syndromes

Fryns syndrome 3

Pointer syndrome

Craniofacial-Musculoskeletal-Pulmonary-Auditory syndromes

Keutel syndrome 1

Craniofacial-Musculoskeletal-Pulmonary-Urogenital syndromes

Calabro syndrome

Craniofacial-Musculoskeletal-Renal syndromes

Galloway Mowat syndrome

Craniofacial-Musculoskeletal-Renal-Urogenital syndromes Chromosome 18p tetrasomy syndrome

Craniofacial-Musculoskeletal-Urogenital syndromes

Michelin tire baby syndrome

Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome (Rüdiger syndrome 1)

Genitopatellar syndrome

Popliteal pterygium syndrome (PPS)

Craniofacial-Neurologic syndromes

Arrhinia-choanal atresia-microphthalmia syndrome

Bangstad syndrome

Brooks syndrome

Cerebro-oculo-nasal syndrome

Chromosome 5p tetrasomy syndrome

Chromosome 6 ring syndrome

Chromosome 6q duplication syndrome

Chromosome 7 ring syndrome

Chromosome 11q deletion syndrome

Chromosome 12p deletion syndrome

Chromosome 12p tetrasomy syndrome (Pallister-Killian syndrome)

Chromosome 13q duplication syndrome

Chromosome 15q deletion syndrome

Chromosome 16q deletion syndrome

Chromosome 18q deletion syndrome

Chromosome 19q duplication syndrome

Chromosome 22q deletion syndrome

Cleft palate-lateral synechiae (CPLS) syndrome

Fetal alcohol syndrome (FAS)

Fetal isotretinoin syndrome

Gangliosidosis GM1, type I (Caffey pseudo-Hurler syndrome)

Gangliosidosis GM1, type III

Hyde-Forster syndrome

Jugular foramen syndrome (Vernet's syndrome)

Kaufman oculocerebrofacial syndrome

Mickleson syndrome



Pitt–Hopkins syndrome

Pseudotoxoplasmosis syndrome

Skeletal dysplasia-joint laxity-mental retardation syndrome

Smith–Magenis Syndrome (SMS)

Toriello-Carey syndrome

Craniofacial-Neurologic-Auditory syndromes

Microcephaly-deafness syndrome

Craniofacial-Neurologic-Auriculoocular syndromes

Chromosome 3q deletion syndrome

Craniofacial-Neurologic-Endocrine syndromes

Fryns syndrome (2)

Microcephaly-hypergonadotropic hypogonadism-short stature syndrome

Ramon syndrome

Craniofacial-Neurologic-Gastrointestinal syndromes

Zimmermann–Laband syndrome (ZLS)

Craniofacial-Neurologic-Immunologic syndromes

Rambam-Hasharon syndrome

Craniofacial-Neurologic-Ophthalmic syndrome

Cianchetti syndrome

Cranio-oculofrontonasal malformation

Craniofacial-Neurologic-Ophthalmic-Auditory syndromes

Fine-Lubinsky syndrome

Craniofacial-Neurologic-Ophthalmic-Immunologic syndromes

Toriello syndrome I

Craniofacial-Neurologic-Renal syndrome

Chromosome 16p duplication syndrome

Craniofacial-Neurologic-Sensorineural-Urologic syndromes

Juberg-Marsidi syndrome (JMS)

Craniofacial-Neurologic-Urogenital syndromes

Chromosome 3p duplication syndrome

Chromosome 7p duplication syndrome

Chromosome X fragility syndrome (Escalante syndrome, Martin-Bell syndrome (MBS), Renpenning syndrome 2)

MacDermot-Winter syndrome

Craniofacial-Ophthalmic syndromes

Crouzon syndrome

Craniofacial-Ophthalmic-Renal syndromes

Regenbogen-Donnai syndrome (Facio-oculo-acoustico-renal (FOAR) syndrome)

Craniofacial-Ocular-Urogenital

Chromosome 22q duplication syndrome

Craniofacial-Urogenital syndromes



Cutaneous syndromes

Bazex syndrome

Buschke–Ollendorff syndrome (Dermatofibrosis lenticularis disseminate)

Hay–Wells syndrome

Nakajo syndrome

Naegeli–Franceschetti–Jadassohn syndrome (NFJS)

Netherton syndrome

Papillon-Lefèvre syndrome (PLS) (palmoplantar keratoderma with periodontitis)

Restrictive dermopathy (RD) (tight skin contracture syndrome)

Rombo syndrome

Senter syndrome

Setleis syndrome

Cutaneous-Craniofacial-Musculoskeletal syndromes

Sensenbrenner syndrome (Levin syndrome I)

Cutaneous-Craniofacial-Meusuloskeletal-Neurologic syndromes

Ectodermal dysplasia-cleft lip and palate-mental retardation syndactyly syndrome II

wrinkly skin syndrome (WSS)

Cutaneous-Craniofacial-Meusuloskeletal-Neurologic-Urogenital syndromes Gomez and López-Hernández syndrome Cutaneous-Craniofacial-Neurologic syndromes

Ichthyosis-characteristic appearance-mental retardation syndrome

Macrocephaly-cutis marmorata telangiectatica congenita syndrome

Odontoonychodermal dysplasia (Fadhil syndrome)

Cutaneous-Craniofacial-Urogenital syndromes

Rosselli-Gulienetti syndrome (Zlotogora-Ogür syndrome, Bowen–Armstrong syndrome)

Cutaneous-Dental syndromes

Lelis syndrome

Cutaneous-Gastrointestinal-sensorineural syndromes

ABCD syndrome

Cutaneous-Gastrointestinal-Musculoskeletal syndromes

Dermotrichic syndrome

Cutaneous-Musculoskeletal syndromes

Austin syndrome

Developmental delay-multiple strawberry nevi syndrome

Gorlin-Goltz syndrome (Gorlin syndrome 2, nevoid basal-cell carcinoma (NBCC) syndrome (NBCCS, NBS))

PAPA syndrome

Proteus syndrome (PS) (Wiedemann syndrome 2)

Cutaneous-Musculoskeletal-Neurologic syndromes

Ectodermal dysplasia-mental retardation-syndactyly syndrome

Hereditary bullous dystrophy

Ichthyosis follicularis-atrichia (or alopecia)-photophobia (IFAP) syndrome

Nail–patella syndrome (NPS)

Sjögren-Larsson syndrome (SLS)

Skin mastocytosis-hearing loss-mental retardation syndrome

Cutaneous-Musculoskeletal-Neurologic-Ophthalmic syndromes

Cockayne syndrome (CS) 1

Cutaneous-Musculoskeletal-Neurologic-Renal syndromes

Ichthyosis-mental retardation-dwarfism-renal impairment syndrome

Ichthyosis-split hair-aminoaciduria syndrome

Cutaneous-Musculoskeletal- Ophthalmic syndromes

EEM syndrome (Ectodermal dysplasia-Ectrodactyly-Macular dystrophy syndrome) Cutaneous-sensorineural-urogenital syndromes

Johnson-McMillin syndrome

Cutaneous-Neurologic syndromes

Beare syndrome

Bloch-Sulzberger syndrome

Brittle hair-mental deficit syndrome (Sabinas syndrome)

Gingival fibromatosis-hypertrichosis-epilepsy-mental retardation syndrome

Ito hypomelanosis (Ito syndrome)

Late-onset local junctional epidermolysis bullosa-mental retardation syndrome

Legius syndrome (LS) (Neurofibromatosis Type 1-like syndrome (NFLS))

Neurofibromatosis type I

Tay syndrome

Cutaneous-Neurologic-Endocrine syndromes

Rud syndrome

Cutaneous-Neurologic-Ophthalmic syndromes

Cross syndrome (Kramer syndrome)

Desmons syndrome

Ichthyosis-alopecia-ectropion-mental retardation syndrome

Microphthalmia-dermal aplasia-sclerocornea (MIDAS) syndrome

Cutaneous-Neurologic-Ophthalmic-Hematologic syndromes

Richner-Hanhart syndrome

Cutaneous-ophthalmic syndromes

Rothmund-Thomson syndrome (RTS)

Xeroderma pigmentosum

Cutaneous-Neurologic-Urogenital syndromes

Amish brittle hair syndrome (Trichothiodystrophy (TTD), BIDS syndrome)

Endocrine syndromes

Albright syndrome 1

Androgen insensitivity syndrome

Apparent mineralocorticoid excess syndrome

Aromatase excess syndrome

Del Castillo syndrome (Sertoli cell-only syndrome)

Estrogen insensitivity syndrome

Follicle-stimulating hormone (FSH) insensitivity (ovarian follicle hypoplasia)

Gonadotropin-releasing hormone (GnRH) insensitivity

Kallmann syndrome 3 (de Morsier syndrome)

Perrault syndrome

Swyer syndrome (XY gonadal dysgenesis)

Werner syndrome (WS)

Endocrine-Auditory syndromes

Pendred syndrome

Endocrine-Cardiovascular-Craniofacial-Neurologic syndromes

Young–Simpson syndrome (YSS)

Endocrine-Cardiovascular-Musculoskeletal-Neurologic syndromes

Gonadal failure-short stature-mitral valve prolapse-mental retardation syndrome

Endocrine-Craniofacial-Cutaneous syndromes

Rabson-Mendenhall syndrome

Endocrine-Craniofacial-Musculoskeletal syndromes

Pallister-Hall syndrome (Hall syndrome 2)

Endocrine-Craniofacial- Neurologic syndromes

Diabetes mellitus-mental retardation-lipodystrophy-dysmorphic traits syndrome

Laron's syndrome

X-linked mental retardation-growth hormone deficiency syndrome

Endocrine-Craniofacial-Ophthalmic syndromes

MOMO syndrome

Endocrine-Craniofacial-Urogenital syndromes

Donohue syndrome (Leprechaunism)

Endocrine-Gastrointestinal-Ophthalmic syndromes

Triple-A syndrome (AAA) (Achalasia-Addisonianism-Alacrima syndrome, Allgrove syndrome)

Endocrine-Hematologic-Gastrointestinal-Neurologic syndrome

Crigler–Najjar syndrome

Endocrine-Hematologic-Neurologic syndromes

Denys–Drash syndrome

Endocrine-Musculoskeletal syndromes

Jansen's metaphyseal chondrodysplasia (JMC)

Kenny-Caffey syndrome (KCS)

Wolcott-Rallison syndrome Endocrine-Musculoskeletal-Urogenital-Cutaneous syndromes

Berardinelli-Seip syndrome (Miescher syndrome 2)

Endocrine-Neurologic syndromes

Hypoparathyroidism-stature-mental retardation-seizures syndrome

Lesch-Nyhan syndrome (LNS)

Endocrine-Neurologic-Cutaneous syndromes

Addison-Schilder syndrome (Siemerling-Creutzfeldt syndrome, Fanconi-Prader syndrome)

Åkesson syndrome

Feingold-Schilder syndrome

Hypogonadism-alopecia-diabetes mellitus-mental retardation-deafness-ECG abnormalities syndrome

Familial endocrine-neuroectodermal abnormalities syndrome

Woodhouse-Sakati syndrome

Endocrine-Neurologic-Musculoskeletal syndromes

Agonadism-mental retardation-short stature-retarded bone age syndrome

Brissaud syndrome 1

Chromosome Xp22 deletion syndrome

Chromosome XXY syndrome (Klinefelter syndrome (KS))

Chromosome XXXXY syndrome (Klinefelter variant)

Endocrine-Neurologic-Musculoskeletal-Ophthalmic syndromes

Macrosomia-obesity-macrocephaly-ocular abnormality (MOMO) syndrome

Endocrine-Neurologic-Ophthalmic syndromes

Hypogonadotropic hypogonadism-mental retardation-microphthalmia syndrome

Pigmentary retinopathy-hypogonadism-mental retardation-nerve deafness-glucose intolerance syndrome

Endocrine-Neurologic-Renal syndromes

Barakat syndrome

Endocrine-Ophthalmic-Auditory syndromes

Tietz albinism-deafness syndrome (Tietz syndrome)

Wolfram syndrome

Endocrine-Pulmonary syndrome

ROHHAD syndrome (Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation)

Endocrine-Renal Syndromes

Liddle syndrome

Endocrine-Urogenital syndromes

Leydig cell hypoplasia (Leydig cell agenesis)

Persistent Müllerian duct syndrome (PMDS)

Gastrointestinal syndromes

Dubin–Johnson syndrome

Gilbert's syndrome (GS)

Lucey–Driscoll syndrome

Peutz–Jeghers syndrome

Prune belly syndrome (PBS)

Menkes syndrome

Rotor syndrome

Gastrointestinal-Musculoskeletal-Auditory syndromes

Townes-Brocks syndrome (TBS) (REAR syndrome)

Gastrointestinal-Craniofacial-Renal syndromes

Hardikar syndrome

Gastrointestinal-Craniofacial-Neurologic syndromes

Mowat–Wilson syndrome (Hischsprung disease-microcephaly-mental retardation-characteristic facies syndrome)

 

Gastrointestinal-Endocrine-Renal syndromes

Beckwith-Wiedemann syndrome (BW, BWS)

Gastrointestinal-Hematologic-Neurologic syndromes

Anderson syndrome

Gastrointestinal-Neurologic syndromes

Mungan syndrome

Sandifer syndrome

Gastrointestinal-Craniofacial-Neurologic-Auditory syndromes

Johanson–Blizzard syndrome (JBS)

Gastrointestinal-Craniofacial-Musculoskeletal-Neurologic-Urogenital syndromes< Hennekam syndrome

Hematologic and neoplastic syndromes

Bloom syndrome

Gardner syndrome

Gray platelet syndrome (GPS) (platelet alpha-granule deficiency)

Kostmann syndrome

Li–Fraumeni syndrome

Lynch syndrome (HNPCC)

Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE)

Pacak-Zhuang syndrome

Twin-to-twin transfusion syndrome (TTTS)

Twin Anemia-Polycythemia Sequence

Hematologic-Craniofacial-Neurologic syndromes

Congenital Thrombocytopenia-Robin sequence-agenesis of corpus callosum-distinctive facies-developmental delay syndrome

Hematologic-Cutaneous syndromes

Kasabach–Merritt syndrome (KMS)

Zinsser-Engman-Cole syndrome

Hematologic-Endocrine-Gastrointestinal syndromes

Pearson syndrome

Hematologic-Gastrointestinal syndromes

Berdon syndrome

Hematologic-musculoskeletal syndromes Aase syndrome

OSLAM syndrome

Hematologic-Musculoskeletal-Ophthalmic syndromes

Osteosarcoma-cataracts-diabetes mellitus-osteoporosis-erythroid macrocytosis-growth and developmental deficiency syndrome

Hematologic-Musculoskeletal-Neurologic syndrome

Myopathy-lactic acidosis-sideroblastic anemia syndrome

Phosphoglycerate kinase (PGK) deficiency

Hematologic-Neurologic syndromes

Alpha-thalassemia/mental retardation syndrome, nondeletion type (ATR2, ATR, nondeletion)

Arakawa syndrome 2

Benjamin syndrome

Hb H disease-mental retardation syndrome (Alpha-thalassemia/mental retardation syndrome, deletion type (ATR, deletion. ATR1, ATR-16))< Neuroblastoma-multiple congenital anomalies-mental retardation syndrome

Hematologic-Sensorineural syndromes

Fechtner syndrome

Immunologic syndromes

MonoMAC syndrome

Nezelof syndrome

Omenn syndrome

Immunologic-Cardiovascular-Craniofacial-Endocrine syndromes

DiGeorge syndrome (DGS)

Immunologic-Craniofacial syndromes

ICF syndrome (Immunodeficiency-Centromere instability-Facial anomalies syndrome)

Immunologic-Craniofacial-Neurologic syndromes

Immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome

Immunologic-Craniofacial- Cutaneous-Neurologic-Ophthalmic syndromes

Vici syndrome

Immunologic-Cutaneous Syndromes

Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature (CANDLE) syndrome

Griscelli syndrome

Hyperimmunoglobulinemia E syndrome

WHIM Syndrome (Warts, Hypogammaglobulinemia, Immunodeficiency, and Myelokathexis syndrome)

Immunologic-Cutaneous-Hematologic Syndromes

TEMPI Syndrome

Immunologic-Cutaneous-Neurologic Syndromes

Ataxia telangiectasia variant 1 (AT-V1) (Berlin breakage syndrome)

Chédiak–Higashi syndrome

 

Musculoskeletal syndromes

Achard syndrome

Acropectoral syndrome

Arthrogryposis multiplex congenita (AMC)

Currarino syndrome

Pseudohypertrophic progressive muscular dystrophy (Becker dystrophy, Duchenne syndrome)

Desbuquois syndrome

Guérin-Stern syndrome

Ionasescu syndrome (Charcot-Marie syndrome, X-linked recessive, Type II)

Klippel–Feil syndrome

Lethal congenital contracture syndrome 1 (LCCS1)

Liebenberg Syndrome

Limb-girdle muscular dystrophy (LGMD)

Marie-Sainton syndrome (Cleidocranial dysplasia (CCD, CLCD))

Osteodysplastic primordial dwarfism

Poland syndrome

Spondylometaphyseal dysplasia-short limb-abnormal calcification syndrome

Spondyloperipheral dysplasia

Tetra-amelia syndrome

Thanatophoric dysplasia (TD)

Wallis–Zieff–Goldblatt syndrome (Cleidorhizomelic syndrome)

Worth syndrome X-linked myotubular myopathy (XLMTM, MTMX) (centronuclear myopathy (CNM))

Musculoskeletal-Auditory syndrome

Dystonia-deafness syndrome

Musculoskeletal-Cardiovascular syndromes

Ehlers–Danlos syndrome (EDS)

Holt–Oram syndrome

Larsen syndrome (LS)

Musculoskeletal-Cardiovascular-Gastrointestinal syndromes

Microcephaly-oculo-digito-esophageal-duodenal (MODED) syndrome (    Feingold syndrome)

Musculoskeletal-Cardiovascular-Ophthalmic syndromes

Frank ter Haar-syndrome< Musculoskeletal-Cardiovascular-Pulmonary syndromes

Yunis–Varon syndrome (YVS)

Musculokeletal-Craniofacial syndromes

Greig cephalopolysyndactyly (GCPS) syndrome (Greig syndrome, Hootnick-Holmes syndrome)

Hajdu-Cheney syndrome (HCS) (Cheney syndrome)

Impossible Syndrome (Chondrodysplasia-situs inversus-imperforate anus-polydactyly)

Multiple synostoses syndrome< Occipital horn syndrome (OHS)

Orofaciodigital (OFD) syndrome IV (Baraitser-Burn syndrome)

Musculoskeletal-Craniofacial-Auriculo ocular syndromes

Berry-Treacher Collins syndrome

Musculoskeletal-Cardiovascular-Neurologic-Urogenital syndromes

Ellis-van Creveld (EvC) syndrome

Chromosome XO syndrome (Turner syndrome (TS))

Chromosome Xq duplication syndrome

Musculoskeletal-Cardiovascular-Craniofacial-Musculoskeletal-Endocrine syndromes

McDonough syndrome

Musculoskeletal-Craniofacial-Cardiovascular syndromes

Bixler syndrome (Hypertelorism-microtia-clefting (HMC) syndrome)

Brachydactyly-mesomelia-mental retardation-aortic dilation-mitral valve prolapse-characteristic facies syndrome

Musculoskeletal-Craniofacial-Endocrine-Neurologic syndromes

Mental retardation-facial anomalies-hypopituitarism-distal arthrogryposis syndrome

Mental retardation-distal arthrogryposis syndrome

Musculoskeletal-Craniofacial-Neurologic syndromes

Kocher-Debré-Sémélaigne (KDS) syndrome

Musculoskeletal-Craniofacial-Neurologic-Ophthalmic syndromes

Osteogenesis imperfecta-optic atrophy-retinopathy-developmental delay syndrome

Musculoskeletal-Craniofacial-Neurologic-Ophthalmic-Auditory syndromes

Nasodigitoacoustic syndrome

Musculoskeletal-Craniofacial-Ophthalmic syndromes

Weill–Marchesani syndrome 9Spherophakia-brachymorphia syndrome)

Musculoskeletal-Craniofacial-Urogenital syndromes

Aarskog–Scott syndrome (Greig syndrome) (ICD 10: Q87.1)

Robinow syndrome (Mesomelic dwarfism-small genitalia syndrome)

Musculoskeletal-Craniofacial-Cutaneous-Neurologic syndromes

Trichorhinophalangeal (TRP) syndrome 2 (TRPS2) (Alè-Calò syndrome, Langer-Giedion syndrome)

Arthrogryposis-ectodermal dysplasia-cleft lip/palate-developmental delay syndrome

Musculoskeletal-Craniofacial-Neurologic-Pulmonary syndromes

Rubinstein-Taybi syndrome (RSTS, RTS)

Musculoskeletal-Craniofacial-Urologic syndromes<

Schmitt Gillenwater Kelly syndrome

Musculoskeletal-Cutaneous-Hematologic syndrome

Maffucci syndrome

Musculoskeletal-Cutaneous-Ophthalmic syndromes

SHORT syndrome

Musculoskeletal-Cutaneous-Urogenital syndromes

Silver-Russell syndrome (SRS)

Musculoskeletal-Gastrointestinal-Cardiovascular-Pulmonary-Renal syndromes

VACTERL (vertebral anomalies-anal atresia-cardiac abnormalities-tracheoesophageal fistula-renal agenesis-limb defects) association with hydrocephalus syndrome

VATER (vertebral defects-anal atresia-tracheoesophageal fistula-esophageal atresia-radial and renal dysplasia) association or syndrome (Kaufman syndrome)

Musculoskeletal-Gastrointestinal-Urogenital syndromes

Johnson–Munson syndrome

Musculoskeletal-Ophthalmic-Neurologic syndromes

CAMFAK (cataract-microcephaly-failure to thrive-kyphoscoliosis) syndrome (Cockayne syndrome 2, Lowry syndrome 2)

Schwartz-Jampel syndrome (SJS) (Aberfeld syndrome)

Musculoskeletal-Neurologic syndromes

Arkless-Graham syndrome (Acrodysostosis)

Acrofacial dysostosis (ACD), Catania type

Acrofrontofacionasal (AFFN) dysostosis syndrome 1

Charcot–Marie–Tooth disease (CMT)

Erb-Charcot syndrome (spastic paraplegia (SP))

Hyperglycerolemia

Hutterite cerebro-osteo-nephrodysplasia

Jancar syndrome

Keutel syndrome 2

Lujan-Fryns syndrome

Marfanoid habitus-mental retardation syndrome

Mixed sclerosing bone dysplasia-small stature-seizures-mental retardation syndrome

Radio-ulnar synostosis-short stature-microcephaly-scoliosis-mental retardation syndrome

Radioulnar synostosis-developmental retardation-hypotonia syndrome

Short stature-microcephaly-syndactyly-dysmorphic face-mental retardation syndrome

Spinal muscular atrophy-mental retardation syndrome

Spondylo-epiphyseal dysplasia tarda-mental retardation syndrome

Troyer syndrome (TS)

Wieacker-Wolff syndrome

Musculoskeletal-Neurologic-Cardiovascular-Ophthalmic syndromes

Marfan syndrome (MFS)

Musculoskeletal-Neurologic-Cardiovascular-Urogenital syndromes

Smith-Lemli-Opitz (SLO) syndrome I (SLOS I) (RSH syndrome)

Musculoskeletal-Neurologic-Cardiovascular-Renal syndromes

Pretzel syndrome

Musculoskeletal-Neurologic-Cutaneous syndromes

Dubowitz syndrome 1

Fitzsimmons syndrome

Growth retardation-small and puffy hands-eczema syndrome

Grubben syndrome

Patterson syndrome

Ulnar hypoplasia-club feet-mental retardation syndrome

Musculoskeletal-Neurologic-Cutaneous-Endocrine-Cardiovascular syndromes

Jaffe-Campanacci syndrome

Musculoskeletal-Neurologic-Cutaneou-Auditory syndromes

Macrocephaly-hypertelorism-short limbs-hearing loss-developmental delay syndrome

Musculoskeletal-Neurologic-Endocrine-Gastrointestinal syndromes

Fryns syndrome

Musculoskeletal-Neurologic-Gastrointestinal syndromes

Jeune syndrome

Musculoskeletal-Neurologic-Audiovisual syndromes

Brachydactyly-dwarfism-hearing loss-microcephaly-mental retardation syndrome

Musculoskeletal-Neurologic-Auditory syndromes

Cowchock syndrome

Musculoskeletal-Neurologic-Gastrointestinal-Ophthalmic syndromes

Mulibrey (muscle-liver-brain-eye) nanism or dwarfism (Perheentupa syndrome)

Musculoskeletal-Neurologic-Ophthalmic syndromes

Bhaskar–Jagannathan syndrome

Chondrodysplasia-pseudohermaphrodism syndrome

Coffin syndrome 1

Microcephaly-muscular build-rhizomelia-cataracts syndrome

Osteoporosis-pseudoglioma syndrome (OPS)

Spastic quadriplegia-retinitis pigmentosa-mental retardation syndrome

Musculoskeletal-Neurologic-Ophthalmic-Auditory syndromes

Dislocated elbow-bowed tibiae-scoliosis-deafness-cataract-microcephaly-mental retardation syndrome

Mohr-Tranebjaerg syndrome (MTS)

Musculoskeletal-Neurologic-Pulmonary syndromes

Marshall-Smith Syndrome

Stüve-Wiedemann (SW) syndrome (SWS)

Musculoskeletal-Neurologic- renal syndromes

Eronen syndrome

Marfanoid habitus-microcephaly-glomerulonephritis syndrome

Musculoskeleal-Ophthalmic-Endocrine syndromes

Chromosome Xp21 deletion syndrome

Musculoskeletal-Ophthalmic-Renal syndromes

Acroreno-ocular syndrome

Musculoskeletal-Renal syndromes

Exner syndrome (Serpentine fibula-polycystic kidney syndrome)

Musculoskeletal-Auriculoocular syndromes

Fine-Lubinsky syndrome

Musculoskeletal-Urogenital syndromes

Hand-foot-genital syndrome (HFGS)

Musculoskeleta-Vascular-Cutaneous syndromes

Klippel-Trénaunay-Weber (KTW) syndrome (Parkes Weber syndrome)

Neurologic and mental syndromes<

Agenesis of corpus callosum-mental retardation-osseous lesions syndrome

Alexander syndrome

Alzheimer syndrome

Angelman syndrome (Happy puppet syndrome)

Apak syndrome

Arakawa syndrome I

Arakawa's syndrome II

Asperger syndrome

Absence of septum pellucidum with porencephalia syndrome (SASPP)

Andermann syndrome

Apraxia-ataxia-mental deficiency syndrome

Arts syndrome

Ataxia-deafness-retardation (ADR) syndrome

Atkin-Flaitz syndrome

Benign familial macrocephaly (BFM)

Berry-Kravis and Israel syndrome

Brunner syndrome

Cavum septum pellucidum-cavum vergae-macrocephaly-seizures-mental retardation syndrome

Cerebro-oculo-muscular syndrome (COMS)

Chromosome 5p deletion syndrome (cri du chat syndrome)

Chromosome 15 inverted duplication<

Chromosome 19 ring syndrome

Chromosome 20 ring syndrome

Chromosome 22 supernumerary marker

Cocktail party syndrome

Dandy-Walker syndrome (DWS)

Dysequilibrium syndrome (DES) (Halpern syndrome)

Einstein syndrome

Fahr's syndrome (Idiopathic basal ganglia calcification)

Familial striatal degeneration (infantile bilateral striatal necrosis (IBSN) syndrome)

Fragile site mental retardation 2 (FMR2)

Garcia-Lurie syndrome

Gastaut-Geschwind syndromes

Gerhardt syndrome (familial vocal cord dysfunction)

Hydrocephalus-cerebellar agenesis syndrome

Kifafa seizure disorder

Krabbe disease (KD) 1

Lysine malabsorption syndrome

Menkes-Kaplan syndrome

Microcephaly-calcification of cerebral white matter syndrome

Miller-Dieker syndrome (MDS)

Neuronal ceroid lipofuscinosis (CLN)

Norman-Roberts syndrome (NRS)

Ohtahara syndrome (OS)

Panayiotopoulos syndrome

Pelizaeus-Merzbacher disease (PMD)

Porencephaly-cerebellar hypoplasia-internal malformations syndrome

Potocki-Lupski syndrome (PTLS)

Pyruvate dehydrogenase complex (PDHC) deficiency

Rett syndrome (RS, RTS)

Riley–Day syndrome (Familial dysautonomia (FD), hereditary sensory and autonomic neuropathy type III (HSAN-III))

Salla disease

Santavuori syndrome (muscle-eye-brain syndrome (MEBS))

Savant syndrome

Schmidley syndrome (Schmid-Fraccaro syndrome)

Seemanová syndrome 1

Tranebjaerg syndrome 2

Uner Tan syndrome

Vasquez syndrome (X-linked mental retardation syndrome 6 (MRXS6))

Vles syndrome

Waisman syndrome

Walker-Warburg syndrome (WWS) (Chemke syndrome)

West syndrome (WS) (Eclampsia nutans)

Worster-Drought syndrome

X-linked mental retardation 2 (MRX2, XLMR2)

X-linked mental retardation 4 (MRX4, XLMR4)

X-linked mental retardation 5 (MRX5, XLMR5)

X-linked mental retardation 7 (MRX7, XLMR7)

X-linked mental retardation 8 (MRX8, XLMR8)

X-linked mental retardation 9 (MRX9, XLMR9)

X-linked mental retardation 13 (MRX13, XLMR13)

X-linked mental retardation 14 (MRX14, XLMR14)

X-linked mental retardation 15 (MRX15, XLMR15)

X-linked mental retardation 16 (MRX16, XLMR16)

X-linked mental retardation 17 (MRX17, XLMR17)

X-linked mental retardation 18 (MRX18, XLMR18)

X-linked mental retardation 19 (MRX19, XLMR19)

X-linked mental retardation 20 (MRX20, XLMR20)

X-linked mental retardation 23 (MRX23, XLMR23)

X-linked mental retardation 24 (MRX24, XLMR24)

X-linked mental retardation (MRX25, XLMR25)

X-linked mental retardation 26 (MRX26, XLMR26)

X-linked mental retardation 27 (MRX27, XLMR27)

X-linked mental retardation 29 (MRX29, XLMR29)

X-linked mental retardation 30 (MRX30, XLMR30)

X-linked mental retardation 31 (MRX31, XLMR31)

X-linked mental retardation 32 (MRX32, XLMR32)

X-linked mental retardation 34 (MRX34. XLMR34)

X-linked mental retardation 38 (MRX38, XLMR38)

X-linked mental retardation 39 (MRX39, XLMR39)

X-linked mental retardation 41 (MRX41, XLMR41)

X-linked mental retardation (MRX 47, XLMR 47)

X-linked mental retardation-aphasia syndrome (MRXA)

X-linked mental retardation-seizures-acquired micrencephaly-agenesis of corpus callosum syndrome

X-linked mental retardation syndrome 5 (MRXS5) (Pettigrew syndrome (PGS))

Neurologic-Auditory syndromes

Brown-Vialetto-Van Laere syndrome

Neurologic-Cardiovascular-Endocrine syndromes

Chromosome X;autosome translocation syndrome

Neurologic-CardiovascularRenal syndromes

Distal Trisomy 10q

Neurologic-Cardiovascular-Urogenital

Najjar syndrome

Neurologic-cutaneous syndromes

Abdallat–Davis–Farrage syndrome

Aicardi–Goutières syndrome (ICD-10: G31.8)

Absent nails-kinesogenic choreoathetosis-epilepsy-developmental delay syndrome

Alopecia-epilepsy-oligophrenia syndrome (Moynahan alopecia syndrome)

Alopecia-mental retardation (AMR) syndrome

Feuerstein-Mims syndrome (epidermal nevus syndrome (ENS))

Mental retardation-sparse hair syndrome

Sturge-Weber syndrome (SWS)

Tranebjaerg syndrome 1 (X-linked mental retardation-psoriasis syndrome)

Neurologic-Cutaneous-Endocrine syndromes

Hypohidrotic ectodermal dysplasia-hypothyroidism-agenesis of corpus callosum syndrome

Obesity-mental retardation-delayed puberty-macroorchidism-acanthosis nigricans-hyperinsulinemia syndrome

Neurologic-Cutaneous-Hematologic syndromes

Tuberous sclerosis

Neurologic-Cutaneous-Immunologic syndromes

Nijmegen breakage syndrome (NBS)

Neurologic-Cutaneous-Musculoskeletal syndromes

Cantú syndrome

Cerebral malformations-seizures-hypertrichosis-overlapping fingers syndrome

Chromosome diploid/tetraploid mixoploidy syndrome

Coffin-Siris syndrome

Jaeken syndrome (Carbohydrate deficient glycoprotein (CDG) syndrome (CDGS) 1)

Mental retardation-absent nails of hallux and pollex syndrome

Schinzel-Giedion syndrome (SGS)

Van den Bosch syndrome

Neurologic-Cutaneous-Musculoskeletal-Craniofacial syndromes

MORFAN (mental retardation-pre- and postnatal overgrowth-remarkable face-acanthosis nigricans) syndrome

Neurologic-Cutaneous-Musculoskeletal-Craniofacial-Immunologic syndromes

Mulvihill-Smith syndrome

Neurologic-Cutaneous-Musculoskeletal-Sensorineural syndromes

DOOR (deafness-onychodystrophy-osteodystrophy-retardation) syndrome

Neurologic-Cutaneous-Ophthalmic syndromes

Fishman syndrome< GAPO syndrome

Neurologic-Craniofacial-Auditory syndromes

Branchial arch syndrome

Neurologic-Craniofacial-Cardiovascular syndromes

Generalized hypotonia-congenital hydronephrosis-characteristic face syndrome

Neurologic-Craniofacial-Cardiovascular-Gastrointestinal syndromes

Kapur-Toriello syndrome

Neurologic-Craniofacial-Cardiovascular-Musculoskeletal syndromes

Chromosome 1p deletion syndrome

Mental retardation-mitral valve prolapse-characteristic face syndrome

Neurologic-Craniofacial-Cardiovascular-Musculoskeletal-Urogenital syndromes

Chromosome 1q deletion syndrome

Chromosome 1q duplication syndrome

Neurologic-Craniofacial-Cardiovascular-Ophthalmic syndromes

Lowry-MacLean syndrome

Neurologic-Craniofacial-Cardiovascular-Renal syndromes

Mutchinick syndrome

Neurologic-Craniofacial-Endocrine syndromes

Sanjad-Sakati syndrome

Tariverdian syndrome

Zollino syndrome

Neurologic-Craniofacial-Gastrointestinal syndromes

Bohring syndrome

Neurologic-Craniofacial-Musculoskeletal syndromes

Acrocallosal syndrome (Schinzel syndrome 1)

Alopecia-contractures-dwarfism (ACD)-mental retardation syndrome

Baraitser-Winter syndrome

Cerebrocostomandibular (CCM) syndrome (CCMS) (Smith-Theiler-Schachenmann syndrome)

Cerebrofaciothoracic syndrome or dysplasia

Chromosome X fragility syndrome

Cornelia de Lange Syndrome (CdLS)

Fucosidosis

Hutchinson–Gilford progeria

Mental retardation-coarse face-microcephaly-epilepsy-skeletal abnormalities syndrome

Mental retardation-overgrowth-craniosynostosis-distal arthrogryposis-sacral dimple-joint laxity syndrome

Mental retardation-coarse facies-epilepsy-joint contractures syndrome

Microcephaly-mild mental retardation-short stature-skeletal anomalies syndrome

Mucopolysaccharidosis (MPS) I (Ellis-Sheldon syndrome, Hurler syndrome)

Mucopolysaccharidosis (MPS) II (Hunter syndrome)

Mucopolysaccharidosis (MPS) III (A, B, C, D) (Sanfilippo syndrome (A, B, C, D))

Mucopolysaccharidosis (MPS) IV (A, B) (Brailsford syndrome)

Mucopolysaccharidosis (MPS) VI (Maroteaux-Lamy disease)

Mucopolysaccharidosis (MPS) VII (Sly syndrome)

Mucopolysaccharidosis (MPS) VIII (DiFerrante syndrome)

Nicolaides–Baraitser syndrome (NCBRS)

Osteopenia-sparse hair-mental retardation syndrome

Pallister syndrome 1 (W syndrome)

Porteous syndrome

Seckel syndrome (SS)

Toriello syndrome II

Toriello-Carey syndrome

Van Haldergem syndrome

X-linked mental retardation 3 (MRX3, XLMR3)

X-linked mental retardation 6 (MRX6, XLMR6)

X-linked mental retardation 21 (MRX21, XLMR21)

X-linked mental retardation 28 (MRX28. XLMR28)

X-linked mental retardation 35 (MRX35, XLMR35)

X-linked mental retardation 36 (MRX36, XLMR36)

X-linked mental retardation 37 (MRX37, XLMR37)

Neurologic-Craniofacial-Ophthalmic-Immunologic syndromes

Toriello syndrome I

Neurologic-Craniofacial-Musculoskeletal-Auditory syndromes

Fountain syndrome

Hearing loss-mental deficiency-growth retardation-clubbed digits-EEG abnormalities syndrome

Mental retardation-hearing impairment-distinct facies-skeletal anomalies syndrome

Myhre syndrome

Neurologic-Craniofacial-Musculoskeletal-Auditory-Dental syndromes

Cerebro-oculo-dento-auriculo-skeletal (CODAS) syndrome

Neurologic-Craniofacial-Musculoskeletal-Cutaneous-Ophthalmic syndromes

Prieto syndrome (PRS) (X-linked mental retardation syndrome 2 (MRXS2))

Neurologic-Craniofacial-Musculoskeletal-Endocrine syndromes

Miles-Carpenter syndrome (MCS) (X-linked mental retardation syndrome 4 (MRXS4))

Sutherland-Haan syndrome (SHS) (X-linked mental retardation syndrome 3 (MRXS3))

Neurologic-Craniofacial-Musculoskeletal-Urogenital syndromes

Mental retardation-polydactyly-phalangeal hypoplasia-syndactyly-unusual face-uncombable hair syndrome

Neurologic-Craniofacial-Cutaneous syndromes

Kaufman syndrome (3)

Neurologic-Craniofacial-Cutaneous-Gastrointestinal-Auriculoocular-Musculoskeletal-Renal-Urogenital syndromes

BRESHECK (brain anomalies-retardation of mentality and growth-ectodermal dysplasia-skeletal malformations-Hirschsprung disease-ear deformity and deafness-eye hypoplasia-cleft palate-cryptorchidism-kidney dysplasia/hypoplasia) syndrome

Neurologic-Craniofacial-Ophthalmic-Auditory syndromes

X-linked mental retardation-blindness-deafness-multiple congenital anomalies syndrome

Neurologic-Craniofacial-Ophthalmic syndromes

Infantile cerebello-optic atrophy (progressive encephalopathy-edema-hypsarrhythmia-optic atrophy (PEHO) syndrome)

HEC syndrome

Neurologic-Craniofacial-Urogenital syndromes

BÖrjeson syndrome

Urofacial syndrome (Ochoa syndrome)

Neurologic-Endocrine-Immunologic syndromes

Chromosome 15q triplication syndrome

Neurologic-Endocrine-Ophthalmic syndromes

Martsolf syndrome

Mental retardation-ataxia-hypotonia-hypogonadism-retinal dystrophy syndrome.

Neurologic-Endocrine- Urogenital syndromes

Urban-Rogers-Meyer syndrome

Neurologic-Gastrointestinal syndrome

Gangliosidosis GM3

Hyperammonemic syndrome (Ornithine transcarbamylase (OTC) deficiency (OTCD))

Neurologic-Gastrointestinal-Ophthalmic syndromes

Hyperpipecolic acidemia-hepatomegaly-mental retardation-optic dysplasia-progressive neurological disease syndrome

Neurologic-hematologic syndromes

Ataxia-pancytopenia syndrome

Neurologic-Musculoskeletal syndromes

Allan-Herndon-Dudley syndrome (AHDS)

Bickers-Adams syndrome

Biemond syndrome (BS) 1

Biemond syndrome (BS) 2

Christian syndrome 2

Chromosome 1p duplication syndrome

Chromosome 14 uniparental disomy syndrome

Corpus callosum hypoplasia-retardation-adducted thumbs-spastic paraparesis-hydrocephalus (CRASH) syndrome

de Lange syndrome 1

de Lange syndrome 2

 Dysosteosclerosis (DOS)

Gangliosidosis GM1, type II (Derry syndrome)

GMS syndrome (goniodysgenesis, intellectual disability, short stature)

Hydrocephalus-skeletal anomalies-mental disturbances syndrome

Kaveggia syndrome (BD syndrome)

Kohlschütter-Tönz syndrome (KTS)

Mental retardation-spastic paraplegia (paraparesis) syndrome

Mesoaxial hexadactyly-cardiac malformation syndrome

Paine syndrome

Partington syndrome (PRTS) (X-linked mental retardation syndrome 1 (MRXS1))

Stoll syndrome (mental retardation-short stature-hypertelorism syndrome)

Warkany syndrome 1

X-linked mental retardation 22 (MRX22, XLMR22)

X-linked mental retardation 33 (MRX33, XLMR33)

Neurologic-Musculoskeletal-Cardiovascular-Ophthalmic syndromes

Chromosome 13 ring syndrome

Fryns-van den Berghe syndrome (Onat syndrome)

Neurologic-Musculoskeletal-Cardiovascular syndromes

Bergia syndrome

Chromosome 8p mosaic tetrasomy

Chromosome 17q duplication syndrome

Neurologic-Musculoskeletal-Cardiovascular-Endocrine syndromes

Moynahan syndrome 1

Neurologic-Musculoskeletal-Cardiovascular-Hematologic syndromes

McLeod syndrome

Neurologic-Musculoskeletal-Endocrine syndromes

Young-Hughes syndrome

Neurologic-Musculoskeletal- Endocrine-Ophthalmic-Auditory Syndromes

Flynn–Aird syndrome

Neurologic-Musculoskeletal-Sensorineural Syndromes

Richards-Rundle syndrome (RRS)

Neurologic-Musculoskeletal-Gastrointestinal-Sensorineural Syndromes

Deafness-femoral epiphyseal dysplasia-short stature-developmental delay syndrome

Neurologic-Musculoskeletal-Ophthalmic-Auditory syndrome

Gustavson syndrome

Neurologic-Musculoskeletal-Endocrine-Ophthalmic syndromes

Laurence-Moon syndrome

Renpenning syndrome 1

Neurologic-Musculoskeletal-Cutaneous-Endocrine-Ophthalmic-Auditory- syndromes

Mental retardation-congenital cataracts-sensorineural deafness-hypogonadism-hypertrichosis-short stature syndrome

Neurologic-Musculoskeletal-Ophthalmic syndromes

Cerebellar vermis hypo/aplasia-oligophrenia-congenital ataxia-ocular coloboma-hepatic fibrosis (COACH) syndrome

Gurrieri syndrome (mental retardation-epilepsy-short stature-skeletal dysplasia syndrome)

Lowry-Wood syndrome (LWS)

Marinesco-Sjögren-like syndrome (MSLS)

Mietens-Weber syndrome

Möbius syndrome

Rodrigues syndrome

Neurologic-Musculoskeletal-Urogenital syndromes

Bardet-Biedl syndrome (BBS)

Branchio-skeleto-genital (BSG) syndrome (ElSahy-Waters syndrome)

Chromosome 15q duplication syndrome

Passos-Bueno syndrome

Prader-Willi syndrome (PWS)

Proud syndrome

Urban–Rogers–Meyer syndrome

X-linked seizures-acquired micrencephaly-agenesis of corpus callosum syndrome

Neurologic-Pulmonary Syndromes

Joubert-Boltshauser syndrome

Plott syndrome (familial vocal cord dysfunction)

Neurologic-Ophthalmic syndromes

Aicardi syndrome

Aldred syndrome

Ataxia-microcephaly-cataract (AMC) syndrome

Behr syndrome 2

Chorioretinal dysplasia-microcephaly-mental retardation syndrome (CDMMS)

Gillespie syndrome 2

Joubert syndrome

Marinesco-Sjögren syndrome (MSS)

Mirhosseini-Holmes-Walton syndrome

Mollica syndrome

Sato syndrome

X-linked mental retardation 10 (MRX10, XLMR10)

X-linked mental retardation 11 (MRX11, XLMR11)

X-linked mental retardation 12 (MRX12, XLMR12)

Neurologic-Ophthalmic-Cardiovascular-Auditory-Endocrine syndromes

Ohdo blepharophimosis syndrome

Neurologic-Ophthalmic-Urogenital syndromes

chromosome 11p deletion syndrome

MORM syndrome

Neurologic-Ophthalmic-Pulmonary syndromes

Bertini syndrome

Neurologic-Ophthalmic-Sensorineural syndromes

Begeer syndrome

Norrie syndrome

Neurologic-Renal syndromes

Galloway syndrome

Neurologic-vascular syndromes

Bourneville-Pringle syndrome
Ophthalmic syndromes

Ascher's syndrome

Blepharonasofacial syndrome (Pashayan-Pruzansky syndrome)

Brown's syndrome

Cataract-microcornea syndrome

Fukuyama syndrome

Graham syndrome

Jalili syndrome

Leber congenital amaurosis (LCA)

Lenz syndrome 2

Senior–Løken syndrome

Ophthalmic-Auditory-Cardiovascular syndromes

Congenital rubella syndrome (CRS)

Ophthalmic-Auditory-Cutaneous-Neurologic syndromes

Waardenburg syndrome

Ophthalmic-Cardiovascular-Gastrointestinal-Urologic syndromes

Cat eye syndrome (CES) (Schmid-Fraccaro syndrome)

Ophthalmic-Craniofacial-Endocrine-Neurologic syndromes

Kearns–Sayre syndrome

Ophthalmic-Craniofacial syndromes

Stickler syndrome

Ophthalmic-Craniofacial-Cutaneous syndromes

Hermansky–Pudlak syndrome (HPS)<
Michels syndrome

Congenital cataracts-sensorineural deafness-Down syndrome-like facial appearance-short stature-mental retardation syndrome

Gorlin syndrome OR (Gillespie syndrome, oculo-dento-digital (ODD) syndrome)

Rieger syndrome (RGS)

Ophthalmic-Craniofacial-Musculoskeletal-Renal-Urogenital syndromes

Fraser syndrome

Ophthalmic-Craniofacial-Neurologic syndromes

Axenfeld-Rieger syndrome

Rutherfurd syndrome

Ophthalmic-Cutaneous-Cardiovascular-Neurologic-Auditory syndromes

Zunich syndrome (CHIME syndrome: colobomas-heart defects-ichthyosiform dermatosis-mental retardation-ear defects)

Ophthalmic-Cutaneous-Neurologic syndromes

Cataract-hypertrichosis-mental retardation (CAHMR) syndrome

Delleman syndrome (oculo-cerebro-cutaneous (OCC) syndrome)

Ophthalmic-Dental-Gastrointestinal syndromes

Axenfeld syndrome

Ophthalmic-Dental-Neurologic syndromes

Nance-Horan syndrome (NHS)

Ophthalmic-Hematologic-Cutaneous-Neurologic syndromes

Revesz syndrome

Ophthalmic-Neurologic syndromes

Ardalan–Shoja–Kiuru syndrome

Ayazi syndrome

Crome syndrome

Lenz microphthalmia syndrome (LMS)

Microphthalmia-mental deficiency syndrome

Seemanová-Lesny syndrome

Shallow orbits-ptosis-coloboma-trigonocephaly-gyral malformations-mental and growth retardation syndrome

Usher syndrome (US) (Graefe-Usher syndrome, Hallgren syndrome)

Went syndrome

Zamzam–Sheriff–Phillips syndrome

Ophthalmic-Neurologic-Endocrine syndromes

Blepharophimosis syndrome (blepharophimosis-ptosis-epicanthus inversus (BPEI) syndrome (BPES))

Carnevale syndrome

Developmental delay-short stature-anterior chamber cleavage disorder-cerebellar hypoplasia-endocrine disturbances-tracheostenosis syndrome

Ptosis-downslanting palpebral fissures-hypertelorism-seizures-mental retardation syndrome

Ophthalmic-Neurologic-Endocrine-Renal syndromes

Lowe syndrome (LS)

Ophthalmic-Neurologic- Musculoskeletal-Endocrine-Gastrointestinal syndromes

Leber congenital amaurosis-short stature-growth hormone insufficiency-mental retardation-hepatic dysfunction-metabolic acidosis syndrome

Ophthalmic-Neurologic-Musculoskeletal syndromes

Blepharophimosis-ptosis-syndactyly-short stature syndrome

Cataract-motor system disorder-short stature-learning difficulty-skeletal abnormalities syndrome

Chromosome 13q deletion syndrome (Orbeli syndrome)

Krause-Kivlin syndrome (Peters-plus syndrome)

Laurence–Moon syndrome (LMS)

Neuhäuser syndrome

Waardenburg syndrome 3 (Ophthalmo-acromelic syndrome)

Ophthalmic-Neurologic-Musculoskeletal-Renal syndromes

Sommer syndrome

Ophthalmic-Neurologic-Auditory-Renal syndromes

coloboma-cleft lip/palate-mental retardation syndrome

Ophthalmic-Renal-Urogenital syndromes

WAGR syndrome

Ophthalmic-Urogenital syndromes

Opitz syndrome (OS)

Pulmonary syndromes

Mounier-Kuhn syndrome (tracheobronchomegaly)

Pulmonary-Cutaneous-Musculoskeletal-Neurologic syndromes

Watson syndrome

Pulmonary-Neurologic-Auditory-Urogenital syndromes

Congenital emphysema-cryptorchidism-penoscrotal web-deafness-mental retardation syndrome

Renal syndromes

Alport syndrome

Bartter syndrome (BS)

Renal-Auricular syndromes

BOR syndrome (branchiootorenal syndrome)

Lachiewicz–Sibley syndrome

Renal-Endocrine-Musculoskeletal-Neurologic syndromes

Perlman syndrome

Renal-musculoskeletal syndromes

Acrorenal syndrome

Geleophysic dysplas

Ulbright–Hodes syndrome (Renal dysplasia-limb defects syndrome (RL syndrome))

Renal-Ophthalmic syndromes

Papillorenal syndrome

Renal mesangial sclerosis-eye defects syndrome

Urogenital Syndromes         

Mayer–Rokitansky–Küster–Hauser syndrome (MRKH) (Müllerian agenesis)

Urogenital-Neurologic syndromes

Hypospadias-mental retardation syndrome

Urogenital-Neurologic-Musculoskeletal-Craniofacial syndromes

Malpuech syndrome

 

Kufor–Rakeb syndrome