Rare Disease Library

Mononen-Karnes-Senac syndrome

Skeletal dysplasia-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

Brachymorphism-onychodysplasia-dysphalangism syndrome

BOD syndrome · Senior syndrome

Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome

Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome · TEBC 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

Dyssegmental dysplasia-glaucoma syndrome

Ectodermal dysplasia syndrome

Ectodermal dysplasia

Ectodermal dysplasia-blindness syndrome

Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome

Ectrodactyly-ectodermal dysplasia without clefting syndrome

EEC syndrome without cleft lip/palate

EEC syndrome

Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

EEM syndrome

Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome

Epilepsy-microcephaly-skeletal dysplasia syndrome

Battaglia-Neri 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

Fountain syndrome

Deafness-skeletal dysplasia-coarse face with full lips syndrome · Deafness-skeletal dysplasia-lip granuloma syndrome

Ghosal hematodiaphyseal dysplasia

Diaphyseal dysplasia-anemia syndrome · Ghosal syndrome

Growth deficiency-brachydactyly-dysmorphism syndrome

Frias syndrome

Hirschsprung disease-type D brachydactyly syndrome

Kumar-Levick syndrome

Nail dysplasia-camptodactyly-brachydactyly type B syndrome

Lethal occipital encephalocele-skeletal dysplasia syndrome

Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome

MGP-related spondyloepiphyseal dysplasia

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

Multiple synostoses syndrome

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

Primary bone dysplasia

Primary osteodysplasia · Primary skeletal dysplasia

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

Senior-Loken syndrome

Nephronophthisis with retinal dystrophy · Renal dysplasia-retinal aplasia syndrome

Sillence syndrome

Brachydactyly-symphalangism syndrome

Skeletal dysplasia-epilepsy-short stature syndrome

Gurrieri-Sammito-Bellussi syndrome

Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome

Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency · EXTL3-related neuro-immuno-skeletal dysplasia syndrome

Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome

SED-BDS · Tattoo dysplasia

Temtamy preaxial brachydactyly syndrome

Tibial aplasia-ectrodactyly syndrome

Aplasia of tibia with split-hand/split-foot deformity · SHFLD syndrome

Ulnar/fibula ray defect-brachydactyly syndrome

Morava-Mehes syndrome

X-linked skeletal dysplasia-intellectual disability syndrome

Christian syndrome