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Cartilaginous - MedlinePlus Genetics

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Last Updated: 10 September 2022

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Beare-Stevenson cutis gyrata syndrome

Beare-Stevenson cutis gyrata syndrome is a genetic disorder that often involves skin abnormalities and premature fusion of certain bones of the skull. This early fusion helps the skull from expanding normally and alters the head and face's appearance. The early fusion of the skull bones triggered many of Beare-Stevenson's cutis gyrata syndrome's characteristic facial features. The skull bone fusion early in the process also influences the brain's development, resulting in delayed growth and intellectual disability. Cutis gyrata, a skin abnormality, is also typical of this disorder. In addition, thick, dark, velvety skin patches of skin can be found on the hands and feet as well as in the genital region. A blockage of the nasal passages, a loss of the airways, overgrowth of the umbilical stump, and abnormalities of the genitalia and anus can be among the signs and symptoms of Beare-Stevenson cutis gyrata syndrome.

Source link: https://medlineplus.gov/genetics/condition/beare-stevenson-cutis-gyrata-syndrome

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions