Stüve-Wiedemann syndrome
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 http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Stüve-Wiedemann syndrome?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Clinical Trials
For a list of clinical trials in this disease area, please click here.