Cyprus facial neuromusculoskeletal syndrome

Cyprus facial neuromusculoskeletal syndrome
Other names	Unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects.
Specialty	Medical genetics
Complications	Neurologic and muscular symptoms can be debilitating at times
Usual onset	Birth
Duration	Lifelong
Deaths	-

Cyprus facial neuromusculoskeletal syndrome is a rare autosomal dominant genetic disorder characterized by a "mephistophelian" appearance consisting of a ridged, thick triangular skin fold extending from the glabella up into the anterior fontanel, alongside other symptoms such as hypertelorism, widow's peak, low-set ears, kyphoscoliosis congenita, congenital clubfoot, hip dislocation, and arthrogryposis. Additional findings include cataracts, decreased articular range of motion, ptosis, and ankylosis, and, less commonly, mild sensory deficits with muscle weakness and atrophy. It has been described in a large 3-generation Greek Cypriot family.