Schwartz-Jampel syndrome

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Synonyms: Aberfeld syndrome | Burton skeletal dysplasia | Burton syndrome | Catel-Hempel syndrome | Dysostosis enchondralis metaepiphysaria, Catel-Hempel type | Myotonic chondrodystrophy | Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies | Osteochondromuscular dystrophy | SJS | SJS1 | Schwartz-Jampel syndrome type 1 | Schwartz-Jampel-Aberfeld syndrome

A rare genetic neuromuscular disease characterized by permanent myotonia mask-like facies (with blepharospasm narrow palpebral fissures small mouth with pursed lips and puckered chin) and chondrodysplasia (variably manifesting with short stature pectus carinatum kyphoscoliosis bowing of long bones epiphyseal metaphyseal and hip dysplasia).

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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Schwartz-Jampel syndrome?

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Advocacy Organizations

Association Aux Pas du Coeur – Côte d’ivoire

Our organization wants to raise awareness and recognition of rare diseases in Ivory Coast. Our mission is to: Raise awareness and campaign to help with the diagnosis and free therapeutic care of patients. Request and/or contribute to actions relating to the training of the medical profession to be able to make a final diagnosis and ensure continuous monitoring of patients easily.

Girls Chronically Rock

Girls Chronically Rock is a fashion brand for the disability community. The word "chronic" in its name is a reference to people living with chronic illnesses. The fashion line is a collection of apparel items for people living with disability with clothing specially designed for men and women. The company's mission is to create, motivate, encourage, inspire, and let people know that you rock and

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Clinical Trials

For a list of clinical trials in this disease area, please click here.