About The Medical Condition Syndrome, Elfin Facies
Find the definition of the medical term Syndrome, Elfin Facies. Syndrome, Elfin Facies defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Syndrome, Elfin Facies
| Syndrome, Elfin Facies Medical Condition |
|---|
What's The Definition Of The Medical Condition Syndrome, Elfin Facies?
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.
|
More Medical Conditions
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Medical Conditions Definitions Of The Day
- Antibiotics, Glycopeptide ‐ Antibiotics whose structure contains one or more cyclic peptides…
- Iron-Sulfur Proteins ‐ A group of proteins possessing only the iron-sulfur complex as…
- Cell Adhesion Molecule, Neural ‐ Cell adhesion molecule involved in a diverse range of contact-mediated…
- Three-Hybrid System Technic ‐ Screening techniques used to identify genes encoding interacting…
- IgA1 ‐ Represents 15-20% of the human serum immunoglobulins, mostly…
- Dichlorophenol Indophenol ‐ A dye used as a reagent in the determination of…
- Alpha-L-Fucosidase ‐ An enzyme that catalyzes the hydrolysis of an alpha L-fucoside…
- Vagina Neoplasm ‐ Tumors or cancer of…
- System, Data Base Management ‐ Software designed to store, manipulate, manage, and control data…
- Education, Continuing Pharmaceutical ‐ Educational programs designed to inform graduate pharmacists…