Английская Википедия:Cyprus facial neuromusculoskeletal syndrome

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Шаблон:Orphan Шаблон:Infobox medical condition

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.[1] Additional findings include cataracts, decreased articular range of motion, ptosis, and ankylosis, and, less commonly, mild sensory deficits with muscle weakness and atrophy.[2][3] It has been described in a large 3-generation Greek Cypriot family.[4][5]

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