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

0 clinical trials for this condition and its sub-types, 0 tagged with Stüve-Wiedemann syndrome 1 itself.

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↑ Bent bone dysplasia (2) ↑ Schwartz-Jampel syndrome (0) ↑ Stuve-Wiedemann syndrome (0)

Including sub-types (0) Tagged with Stüve-Wiedemann syndrome 1 (0)

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