MYH3 autosomal recessive


MYH3-associated autosomal recessive syndrome
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B (CPSFS1B)

Main clinical features:
Clinical features include arthrogryposis, contractures, multiple pterygia, webbed neck, vertebral anomalies, scoliosis, carpal fusion, tarsal fusion, cleft palate, camptodactyly, craniofacial abnormalities, and/or dysmorphic features.

Prevalence is unknown, but all of the MYH3-associated phenotypes have been estimated to be very rare.