MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
Synonyms: MYBPC1-related autosomal recessive non-lethal AMC syndrome
A rare arthrogryposis syndrome characterized by arthrogryposis multiplex congenita with contractures involving multiple joints of the upper and lower limbs camptodactyly of fingers and toes skeletal abnormalities such as scoliosis and pectus excavatum as well as variable speech and motor delay and hypotonia. Facial dysmorphism includes long eyelashes periorbital fullness ptosis epicanthal folds high arched/cleft palate and micrognathia.
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
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MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita 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.
ZC4H2 Research Foundation
Our Mission: The purpose of the ZC4H2 Research Foundation is to support the development of viable therapies and standards of clinical care for the treatment of ZC4H2 Associated Rare Disorders (ZARD), and to be an information and support network for the ZARD community. We advocate through research, awareness, and support. For more information, please visit https://www.zc4h2foundation.org.
Clinical Trials
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