| Cyprus facial neuromusculoskeletal syndrome | |
|---|---|
| Other names | Unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects. [1] |
 | |
| 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. [2] Additional findings include cataracts, decreased articular range of motion, ptosis, and ankylosis, and, less commonly, mild sensory deficits with muscle weakness and atrophy. [3] [4] It has been described in a large 3-generation Greek Cypriot family. [5] [6]
