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 http://www.orphadata.org. Data version April 2026
Newly diagnosed with
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.
Fundacion Powerchair Football Argentina
To develop Powerchair Football in Argentina in order to integrate people with motor disabilities (SMA, Duchenne muscular dystrophy, Achondroplasia, Rare Diseases) into sports practice and to promote their social inclusion, based on empowerment, independence, and the creation of new bonds and friendships.
Girls Chronically Rock
Girls Chronically Rock empowers and inspires people in the disability community through fashion, storytelling, and advocacy. Our mission is to create visibility, spark confidence, and promote inclusion by combining style with purpose.
Neuromuscular Disease Foundation
The Neuromuscular Disease Foundation's (NDF) mission is to enhance the quality of the lives of people living with GNE Myopathy (also known as HIBM) through advocacy, education, outreach, and funding clinical research focused on treatments and a cure.
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.
Wave of Support, Inc
Empowering those affected by bleeding disorders and other rare disease through advocacy, resources, education, and support
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Clinical Trials
For a list of clinical trials in this disease area, please click here.