Autosomal dominant multiple pterygium syndrome

Autosomal dominant multiple pterygium syndrome is a cutaneous condition that is inherited in an autosomal dominant fashion, meaning a single altered copy of the responsible gene is enough to produce it. Its key features are contractures of the joints both near and far from the trunk, pterygia (webs of skin) across the neck, armpit, elbows or knees, variable fusion of the vertebrae and of the carpal and tarsal bones in the wrist and ankle, and short stature. Related conditions that Wikipedia lists alongside it include arthrogryposis, Escobar syndrome and popliteal pterygium syndrome. The musician Patrick Henry Hughes is named as having a type of this condition. This entry is a reference record of what the source describes and is not medical advice.