Rare Disease Library

Ciliopathies with major skeletal involvement

SRP · Short rib dysplasia

Amniotic band syndrome

Congenital constriction ring syndrome · Congenital ring constrictions

Caudal regression syndrome

Caudal dysgenesis syndrome · Caudal dysplasia

Dentin dysplasia

Dysplasia of head of femur, Meyer type

Meyer dysplasia · DECF

Epiphyseal stippling-osteoclastic hyperplasia syndrome

Pacman dysplasia

Greenberg dysplasia

Hydrops-ectopic calcification-motheaten syndrome · Skeletal dysplasia, Greenberg type

Kniest dysplasia

Pelvis-shoulder dysplasia

Kosenow syndrome · Scapuloiliac dysostosis

Renal dysplasia

Kidney dysplasia

Septo-optic dysplasia spectrum

De Morsier syndrome · SOD

Short-limb skeletal dysplasia with severe combined immunodeficiency

Achondroplasia-SCID syndrome · Achondroplasia-Swiss type agammaglobulinemia syndrome

Smith-McCort dysplasia

SPONASTRIME dysplasia

Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia · Spondyloepimetaphyseal dysplasia, Sponastrime type

Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome

SED-BDS · Tattoo dysplasia

Supratip dysplasia