Wrinkly skin syndrome
Wrinkly Skin Syndrome
Wrinkly Skin Syndrome (pronunciation: rink-lee skin sin-drome) is a rare genetic disorder characterized by sagging, wrinkled skin, and other abnormalities.
Etymology
The term "Wrinkly Skin Syndrome" is derived from the characteristic appearance of the skin in affected individuals. The term "syndrome" is used to denote a group of symptoms that consistently occur together.
Definition
Wrinkly Skin Syndrome is a rare inherited disorder that is characterized by sagging, wrinkly skin, and a range of other symptoms. It is caused by mutations in the ATP6V0A2 gene and is inherited in an autosomal recessive manner.
Symptoms
The primary symptom of Wrinkly Skin Syndrome is sagging, wrinkled skin that is especially noticeable on the hands and feet. Other symptoms may include joint hypermobility, microcephaly (small head size), intellectual disability, and growth retardation.
Diagnosis
Diagnosis of Wrinkly Skin Syndrome is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. Genetic testing can confirm a diagnosis.
Treatment
There is currently no cure for Wrinkly Skin Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and other medical, social, and/or vocational services.
Prognosis
The prognosis for individuals with Wrinkly Skin Syndrome varies. The disorder does not typically affect lifespan, but it can significantly impact quality of life.
See Also
External links
- Medical encyclopedia article on Wrinkly skin syndrome
- Wikipedia's article - Wrinkly skin syndrome
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