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Nablus mask-like facial syndrome
Other Names for this Disease
- 8q22.1 microdeletion syndrome
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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.Nablus mask-like facial syndrome is a rare
Last updated: 1/12/2012
- 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 Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Nablus mask-like facial syndrome. Click on the link to go to OMIM and review these resources.
- 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.