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8q22.1 microdeletion syndrome

Disease definition

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

ORPHA:178303

Classification level: Disorder
  • Synonym(s):
    • Monosomy 8q22.1
    • Nablus mask-like facial syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q93.5
  • OMIM: 608156
  • UMLS: C1842464
  • MeSH: -
  • GARD: 4722
  • MedDRA: -

Summary

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.

Expert reviewer(s):  Dr Nicole MORICHON-DELVALLEZ - Last update: October 2010

  A summary on this disease is available in Español (2010) Français (2010) Nederlands (2010)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.