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8q22.1 microdeletion syndrome

Synonym(s) Monosomy 8q22.1
Nablus mask-like facial syndrome
Prevalence <1 / 1 000 000
Inheritance Not applicable
or Unknown
Age of onset Infancy
  • Q93.5
MeSH -
MedDRA -


Disease definition

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


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.


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

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