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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
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MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome?
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