SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/719664004
http://purl.bioontology.org/ontology/SNOMEDCT/719664004
Preferred Name

8q22.1 microdeletion syndrome

Definitions
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.
Synonyms
Monosomy 8q22.1
Nablus mask-like facial syndrome
8q22.1 microdeletion syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class
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