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]
| 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 | - |
References
edit- ^ Roberts, Sean (16 June 2022). "Cyprus facial neuromusculoskeletal syndrome". rarediseases.org.
- ^ "Cyprus facial neuromusculoskeletal syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-08-24.
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Cyprus facial neuromusculoskeletal syndrome". www.orpha.net. Retrieved 2022-08-24.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ "Cyprus Facial Neuromusculoskeletal Syndrome". DoveMed. Retrieved 2022-08-24.
- ^ Middleton, L. T.; Anastasiades, V.; Panayidou, K.; Georghiou, D.; Kalli, E.; Gabriel, G.; Myrianthopoulos, N. C. (1992-12-01). "New hereditary malformation syndrome of unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects". American Journal of Medical Genetics. 44 (6): 757–761. doi:10.1002/ajmg.1320440609. ISSN 0148-7299. PMID 1481843.
- ^ "Entry - 123853 - CYPRUS FACIAL NEUROMUSCULOSKELETAL SYNDROME - OMIM". omim.org. Retrieved 2022-08-24.
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