Stüve-Wiedemann syndrome 1

MONDO:0800043

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.

Also known as: STUVE-Wiedemann syndrome, SWS, Stuve-Wiedemann syndrome, Stws, Stüve-Wiedemann syndrome, SJS2, STWS, Schwartz-Jampel syndrome neonatal

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