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 |
|---|
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.
|
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
- ATRC2 Transporter ‐ A high-affinity, low capacity system y+ amino acid transporter…
- Serology ‐ The study of serum, especially of antigen-antibody reactions…
- Sexual Unions, Visiting ‐ Sexual activities…
- Hydroxyanisole, Butylated ‐ Mixture of 2- and 3-tert-butyl-4-methoxyphenols that is used…
- Status Epilepticus, Complex Partial ‐ A prolonged seizure or seizures repeated frequently enough to…
- Electroconvulsive Shock ‐ Induction of a stress reaction in experimental subjects by means…
- Moving, Health Facility ‐ The relocation of health care institutions or units thereof.…
- Sleep Walking ‐ A parasomnia characterized by a partial arousal that occurs during…
- Shiner ‐ A family of freshwater fish comprising the minnows…
- Ganglionic Blocking Agents ‐ Agents having as their major action the interruption of neural…