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MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome

MedGen UID:
1814448
Concept ID:
C5680092
Disease or Syndrome
Synonyms: MYBPC1-related autosomal recessive non-lethal AMC syndrome; Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
SNOMED CT: Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (1251451005); MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (1251451005)
 
Monarch Initiative: MONDO:0044682
Orphanet: ORPHA498693

Definition

A rare arthrogryposis syndrome with characteristics of 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. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome

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