Stüve-Wiedemann syndrome

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Name:
Stüve-Wiedemann syndrome
Description:
Stüve-Wiedemann syndrome (SWS) is 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.
ORPHAcode:
3206
Synonyms:
Neonatal Schwartz-Jampel syndrome
SJS2
Schwartz-Jampel syndrome type 2
Stüve-Wiedemann dysplasia
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Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14