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Diseases

Genetic and Rare Diseases Information Center (GARD)

Nablus mask-like facial syndrome


Other Names for this Disease
  • 8q22.1 microdeletion syndrome
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Overview

Nablus mask-like facial syndrome is a rare microdeletion syndrome that is characterized by a mask-like facial appearance. Facial features include narrowing of the eye opening (blepharophimosis); tight appearing glistening facial skin; and flat and broad nose. Other features include malformed ears; unusual scalp hair pattern; permanently bent fingers and toes (camptodactyly); joint deformities (contractures) that restrict movement in the hands and feet; unusual dentition; mild developmental delay; undescended testicles in males (cryptorchidism); and a happy disposition. This condition is caused by a deletion at chromosome 8q22.1.[1]
Last updated: 1/12/2012

References

  1. 8q22.1 microdeletion syndrome. Orphanet. October 2010; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=178303. Accessed 1/12/2012.
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In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Nablus mask-like facial syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • 8q22.1 microdeletion syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.