Stüve-Wiedemann syndrome

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Synonyms: Neonatal Schwartz-Jampel syndrome | SJS2 | STWS | SWS | Schwartz-Jampel syndrome type 2 | Stüve-Wiedemann dysplasia

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version June 2024

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Stüve-Wiedemann syndrome?

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