Stüve-Wiedemann syndrome 1

A rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.

Therapeutic area

Rare Disease

Rarity

Rare

Prevalence

~100k patients (est.)

MONDO

MONDO:0800043