Rare Disease Library

Amniotic band syndrome

Congenital constriction ring syndrome · Congenital ring constrictions

Campomelic dysplasia and related disorders

Bent bone dysplasia

Caudal regression syndrome

Caudal dysgenesis syndrome · Caudal dysplasia

Ciliopathies with major skeletal involvement

SRP · Short rib dysplasia

Dentin dysplasia

DD

Diastrophic dysplasia

Diastrophic dwarfism

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

Parastremmatic dysplasia

Parastremmatic dwarfism

Pelvis-shoulder dysplasia

Kosenow syndrome · Scapuloiliac dysostosis

Piepkorn dysplasia

Short ribs-craniosynostosis-polysyndactyly syndrome

Renal dysplasia

Kidney dysplasia

Schneckenbecken dysplasia

Chondrodysplasia with snail-like pelvis · SLC35D1-CDG

Septo-optic dysplasia spectrum

De Morsier syndrome · SOD

Slender bone dysplasia

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

Stüve-Wiedemann syndrome

STWS · Stüve-Wiedemann dysplasia

Supratip dysplasia