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8q22.1 microdeletion syndrome

Orpha number ORPHA178303
Synonym(s) Monosomy 8q22.1
Nablus mask-like facial syndrome
Prevalence <1 / 1 000 000
Inheritance
  • Sporadic
Age of onset Neonatal/infancy
ICD-10
  • Q93.5
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

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.

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.

Expert reviewer(s)

  • Dr Nicole MORICHON-DELVALLEZ

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