Nablus mask-like facial syndrome

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Nablus mask-like facial syndrome (pronunciation: /ˈnæbləs mɑːsk laɪk ˈfeɪʃəl sɪnˈdroʊm/) is a rare genetic disorder characterized by distinctive facial features, including tight skin that gives the face a mask-like appearance.

Etymology

The syndrome is named after the city of Nablus, the largest city in the West Bank, where the first cases were identified. The term "mask-like" refers to the distinctive facial features caused by the syndrome.

Symptoms

The primary symptom of Nablus mask-like facial syndrome is a distinctive facial appearance, which includes tight skin, blepharophyma (an abnormal enlargement of the eyelids), and a mouth that is often held in an open position. Other symptoms may include microcephaly (a smaller than normal head size), intellectual disability, and hearing loss.

Causes

Nablus mask-like facial syndrome is caused by a mutation in the ADAT3 gene. This gene is involved in the process of RNA editing, which is crucial for the proper functioning of cells. The mutation leads to abnormal development of the skin and other tissues, resulting in the symptoms of the syndrome.

Diagnosis

Diagnosis of Nablus mask-like facial syndrome is based on the distinctive facial features. Genetic testing can confirm the diagnosis by identifying the mutation in the ADAT3 gene.

Treatment

There is currently no cure for Nablus mask-like facial syndrome. Treatment is focused on managing the symptoms and may include speech therapy, physical therapy, and occupational therapy to help improve quality of life.

See also

External links

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