Nablus mask-like facial syndrome

Ideogram human chromosome 8

Nablus mask-like facial syndrome is a rare genetic disorder characterized by distinctive facial features and various developmental abnormalities. It was first described in the city of Nablus, located in the West Bank, which is how the syndrome got its name.

Clinical Features

Individuals with Nablus mask-like facial syndrome typically exhibit a set of unique facial characteristics, including:

• A mask-like facial appearance
• Narrow palpebral fissures
• Flat nasal bridge
• Long philtrum
• Thin upper lip
• Micrognathia (small jaw)

Other common features may include:

• Intellectual disability
• Developmental delay
• Hypotonia (reduced muscle tone)
• Congenital heart defects
• Skeletal abnormalities

Genetics

Nablus mask-like facial syndrome is caused by a microdeletion on chromosome 8q22.1. This deletion affects several genes, which contribute to the phenotypic manifestations of the syndrome. The exact mechanism by which these deletions lead to the clinical features is still under investigation.

Diagnosis

Diagnosis of Nablus mask-like facial syndrome is primarily based on clinical evaluation and the identification of characteristic facial features. Genetic testing, such as chromosomal microarray analysis, can confirm the presence of the 8q22.1 microdeletion.

Management

There is no cure for Nablus mask-like facial syndrome. Management is symptomatic and supportive, focusing on addressing the individual symptoms and improving the quality of life for affected individuals. This may include:

• Early intervention programs for developmental delays
• Special education services
• Physical therapy for hypotonia
• Surgical correction of congenital heart defects, if present

Epidemiology

Nablus mask-like facial syndrome is extremely rare, with only a few cases reported in the medical literature. The exact prevalence is unknown.

See Also

• Genetic disorder
• Chromosomal microarray analysis
• Congenital heart defect
• Developmental delay
• Intellectual disability

External Links

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