8q22.1 Microdeletion Syndrome

The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.

Epidemiology

It has been reported in four unrelated patients.

Clinical description

A mask-like facial appearance is the most characteristic feature with blepharophimosis, tight appearing glistening facial skin, flat and broad nose, dysplastic ears and unusual scalp hair pattern. Camptodactyly, joint contractures, unusual dentition and mild developmental delay can be observed. Cryptorchidism in boys and a happy disposition are constant.

Etiology

This microdeletion was identified by comparative genomic hybridisation (CGH) microarray.