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