Stüve-Wiedemann syndrome 1
MONDO:0800043A 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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