About The Medical Condition Elfin Facies Syndromes
Find the definition of the medical term Elfin Facies Syndromes. Elfin Facies Syndromes defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Elfin Facies Syndromes
| Elfin Facies Syndromes Medical Condition |
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What's The Definition Of The Medical Condition Elfin Facies Syndromes?
A contiguous gene syndrome associated with a heterozygous microdeletion in the chromosomal region 7q11.23, encompassing the ELASTIN gene. Clinical manifestations include supravalvular aortic stenosis (AORTIC STENOSIS, SUPRAVALVULAR), MENTAL RETARDATION, elfin facies, impaired visuospatial constructive abilities, and transient hypercalcemia in infancy. The condition affects both sexes, with onset at birth or in early infancy.
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