MYH3 autosomal dominant

Clinical Characteristics for Families

Possible clinical features include the following, but different combinations of these symptoms are present in different patients:
•    contractures (= shortened muscles)
•    multiple pterygia (= webbing of the skin)
•    vertebral anomalies (= malformations of the spine)
•    scoliosis (= curvature of the spine)
•    talipes (= clubfoot)
•    fusion of carpal / tarsal bones
•    cleft lip and/or cleft palate (= a small gap in the lip and/or palate)
•    short stature
•    dysmorphic facial features
•    underd mouth with pinched lips (“whistling face”)
•    risk for malignant hyperthermia