Nablus mask-like facial syndrome

Nablus mask-like facial syndrome (Nablus syndrome) is a rare (13 cases described by 2018) genetic condition. It is a microdeletion syndrome triggered by a deletion at chromosome 8 q22.1 that causes a mask-like facial appearance in those affected.[1]

Nablus mask-like facial syndrome
Other names8q22.1 microdeletion syndrome

Presentation

It is characterized by a narrowing of the eyes, tight, glistening facial skin, and a flat, broad nose. Other features of the syndrome include malformed ears, unusual hair patterns on the scalp, bent fingers and toes and joint deformities in the hands and feet, unusual teeth, mild developmental delay, cryptorchidism.

Genetics

This syndrome is associated with a deletion mutation in the long arm of chromosome 8 (8q22.1).Its inheritance pattern has not yet been determined.

Epidemiology

It is a rare genetic disorder by inheritance found in Palestine in 2000 by Ahmad Teebi. Teebi named it after Nablus, the city in the West Bank which it was discovered in. It is part of many new genetic disorders of newborns that is increasing exponentially in Arabs in recent years as reported by Centre for Arab Genomic Studies in Dubai.


References
  1. "Rare diseases". National Institute of Health.
Classification
External resources
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