Rare Disease Library

Cryptomicrotia-brachydactyly-excess fingertip arch syndrome

Tonoki-Ohura-Niikawa syndrome · Cryptomicrotia-brachydactyly syndrome

2q37 microdeletion syndrome

Albright hereditary osteodystrophy type 3 · Albright hereditary osteodystrophy-like syndrome

Acrodysplasia scoliosis

Prata-Liberal-Goncalves syndrome · Brachydactyly-scoliosis-carpal fusion syndrome

Brachydactyly-arterial hypertension syndrome

Bilginturan brachydactyly · Bilginturan syndrome

Brachydactyly-elbow wrist dysplasia syndrome

Brachydactyly-joint dysplasia syndrome · Liebenberg syndrome

Brachydactyly-long thumb syndrome

Brachydactyly, long thumb type

Brachydactyly-nystagmus-cerebellar ataxia syndrome

Biemond syndrome

Brachydactyly-preaxial hallux varus syndrome

Brachydactyly-syndactyly, Zhao type

Coloboma of macula-brachydactyly type B syndrome

Sorsby syndrome

Craniosynostosis-dysmorphism-brachydactyly syndrome

Glass-Chapman-Hockley syndrome

Craniosynostosis-facial dysmorphism-brachydactyly syndrome

TCF12-related syndromic craniosynostosis

Exostoses-anetodermia-brachydactyly type E syndrome

Feingold syndrome type 2

Brachydactyly-short stature-microcephaly syndrome · Brunner-Winter syndrome type 2

Fibular aplasia-complex brachydactyly syndrome

Du Pan syndrome

Fraser syndrome

Cryptophthalmos-syndactyly syndrome

Hirschsprung disease-type D brachydactyly syndrome

Ichthyosis-short stature-brachydactyly-microspherophakia syndrome

15q26.3 microdeletion syndrome

Kumar-Levick syndrome

Nail dysplasia-camptodactyly-brachydactyly type B syndrome

Microcephaly-brachydactyly-kyphoscoliosis syndrome

Viljoen-Kallis-Voges syndrome

Mononen-Karnes-Senac syndrome

Skeletal dysplasia-brachydactyly syndrome

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

Sillence syndrome

Brachydactyly-symphalangism syndrome

Temtamy preaxial brachydactyly syndrome

Ulnar/fibula ray defect-brachydactyly syndrome

Morava-Mehes syndrome