Rare Disease Library

Multiple synostoses syndrome

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

2q37 microdeletion syndrome

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

Acrodysplasia scoliosis

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

Aphalangy-syndactyly-microcephaly 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

Brachymorphism-onychodysplasia-dysphalangism syndrome

BOD syndrome · Senior syndrome

Brachytelephalangy-dysmorphism-Kallmann syndrome

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

Cryptomicrotia-brachydactyly-excess fingertip arch syndrome

Tonoki-Ohura-Niikawa syndrome · Cryptomicrotia-brachydactyly syndrome

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

Growth deficiency-brachydactyly-dysmorphism syndrome

Frias syndrome

Hirschsprung disease-type D brachydactyly syndrome

Kumar-Levick syndrome

Nail dysplasia-camptodactyly-brachydactyly type B syndrome

MGP-related spondyloepiphyseal dysplasia

MGP-related SED · Spondyloepiphyseal dysplasia-platyspondyly-brachytelephalangism syndrome

Microcephaly-brachydactyly-kyphoscoliosis syndrome

Viljoen-Kallis-Voges syndrome

Mononen-Karnes-Senac syndrome

Skeletal dysplasia-brachydactyly syndrome

Sillence syndrome

Brachydactyly-symphalangism syndrome

Temtamy preaxial brachydactyly syndrome

Triphalangeal thumb-polysyndactyly syndrome

TPT-PS syndrome

Triphalangeal thumbs-brachyectrodactyly syndrome

Carnevale-Hernández-del Castillo-Torres syndrome

Ulnar/fibula ray defect-brachydactyly syndrome

Morava-Mehes syndrome