Rare Disease Library

Lowry-Wood syndrome

Epiphyseal dysplasia-microcephaly-nystagmus syndrome

Achalasia-microcephaly syndrome

Anonychia-microcephaly syndrome

Teebi-Kaurah syndrome

Deafness-epiphyseal dysplasia-short stature syndrome

Chitty-Hall-Baraitser syndrome · Hearing loss-epiphyseal dysplasia-short stature syndrome

Epilepsy-microcephaly-skeletal dysplasia syndrome

Battaglia-Neri syndrome

Epiphyseal dysplasia-hearing loss-dysmorphism syndrome

Finucane-Kurtz-Scott syndrome · Epiphyseal dysplasia-deafness-dysmorphism syndrome

Ghosal hematodiaphyseal dysplasia

Diaphyseal dysplasia-anemia syndrome · Ghosal syndrome

Goldberg-Shprintzen megacolon syndrome

GOSHS · Megacolon-microcephaly syndrome

Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome

Leukoencephalopathy-metaphyseal chondrodysplasia syndrome · H-SMD

MGP-related spondyloepiphyseal dysplasia

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

Microspherophakia-metaphyseal dysplasia syndrome

Verloes-Van Maldergem-de Marneffe syndrome

Multiple epiphyseal dysplasia

MED · EDM

Multiple epiphyseal dysplasia type 5

Bilateral hereditary micro-epiphyseal dysplasia · BHMED

Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome

Multiple epiphyseal dysplasia, Al-Gazali type

Multiple epiphyseal dysplasia-miniepiphyses syndrome

Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome

Multiple epiphyseal dysplasia, Beighton type

Multiple epiphyseal dysplasia-myopia-hearing loss syndrome · Multiple epiphyseal dysplasia-myopia-deafness syndrome

Pectus excavatum-macrocephaly-dysplastic nails syndrome

Zori-Stalker-Williams syndrome

Schimke immuno-osseous dysplasia

Schimke syndrome · Spondyloepiphyseal dysplasia-nephrotic syndrome

Spondyloepiphyseal dysplasia, Byers type

Spondyloepiphyseal dysplasia-punctate corneal dystrophy syndrome

Thoracic dysplasia-hydrocephalus syndrome

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome