Rare Disease Library

Septo-optic dysplasia spectrum

De Morsier syndrome · SOD

Acromelic dysplasia

Amniotic band syndrome

Congenital constriction ring syndrome · Congenital ring constrictions

Anauxetic dysplasia

Spondyloepimetaphyseal dysplasia, Menger type · Spondyloepimetaphyseal dysplasia, anauxetic type

Ciliopathies with major skeletal involvement

SRP · Short rib dysplasia

Dentin dysplasia

DD

Dysplasia of head of femur, Meyer type

Meyer dysplasia · DECF

Greenberg dysplasia

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

Otodental syndrome

Globodontia · Otodental dysplasia

Renal dysplasia

Kidney dysplasia

Spondylodysplastic dysplasia

Supratip dysplasia