Rare Disease Library

Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type

Hadziselimovic syndrome · Microcephaly-faciocardioskeletal syndrome

Achalasia-microcephaly syndrome

Acrocardiofacial syndrome

ACFS · CCGE syndrome

Anonychia-microcephaly syndrome

Teebi-Kaurah syndrome

Aphalangy-syndactyly-microcephaly syndrome

Barth syndrome

3-methylglutaconic aciduria type 2 · BTHS

Blepharofacioskeletal syndrome

Richieri Costa-Guion Almeida-Rodini syndrome

COFS syndrome

Cerebrooculofacioskeletal syndrome · Pena-Shokeir syndrome type 2

Costello syndrome

FCS syndrome · Faciocutaneoskeletal syndrome

Epilepsy-microcephaly-skeletal dysplasia syndrome

Battaglia-Neri syndrome

Faciocardiorenal syndrome

Eastman-Bixler syndrome

Familial scaphocephaly syndrome

Goldberg-Shprintzen megacolon syndrome

GOSHS · Megacolon-microcephaly syndrome

Hypotonia-failure to thrive-microcephaly syndrome

LTC4 synthase deficiency · Leukotriene C4 synthase deficiency

Mandibulofacial dysostosis-microcephaly syndrome

MFDM syndrome · Mandibulofacial dysostosis, Guion-Almeida type

Microcephaly-albinism-digital anomalies syndrome

Castro Gago-Pombo-Novo syndrome

Microcephaly-cardiomyopathy syndrome

Winship-Viljoen-Leary syndrome

Microcephaly-microcornea syndrome, Seemanova type

Seemanova-Lesny syndrome

Microlissencephaly-micromelia syndrome

Basel-Vanagaite-Sirota syndrome

OBSOLETE: Cardioskeletal syndrome

Oculofaciocardiodental syndrome

OFCD syndrome · Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome

Orofaciodigital syndrome type 14

Microcephaly-cerebral malformation-orofaciodigital syndrome · OFD14

Radioulnar synostosis-microcephaly-scoliosis syndrome

Giuffré-Tsukahara syndrome · Tsukahara syndrome

Syndrome with microcephaly as a major feature

Velo-facial-skeletal syndrome