About The Medical Condition Elfin Facies Syndrome
Find the definition of the medical term Elfin Facies Syndrome. Elfin Facies Syndrome defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Elfin Facies Syndrome
| Elfin Facies Syndrome Medical Condition |
|---|
What's The Definition Of The Medical Condition Elfin Facies Syndrome?
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
- Meningeal Cancers ‐ Benign and malignant neoplastic processes that arise from or…
- Parenthood Status ‐ Persons functioning as natural, adoptive, or substitute parents.…
- Relationships, Drug Dose-Response ‐ The relationship between the dose of an administered drug and…
- Protein Inducer MGI ‐ Glycoproteins found in a subfraction of normal mammalian plasma…
- Lichen Nitidus ‐ A chronic inflammatory disease characterized by shiny, flat-topped,…
- Bone, Carpal ‐ The eight bones of the wrist: capitate bone, hamate bone, lunate…
- Apolipoprotein A-I ‐ The major protein component of high density lipoproteins. It…
- Reviews, Continued Stay ‐ Review of the medical necessity of hospital or other health facility…
- CCAAT-Enhancer-Binding Protein ‐ A class of proteins that were originally identified by their…
- Levonorepinephrine ‐ Precursor of epinephrine that is secreted by the adrenal medulla…