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
MYH3 autosomal recessive