About The Medical Condition Contiguous Gene Syndrome, Williams
Find the definition of the medical term Contiguous Gene Syndrome, Williams. Contiguous Gene Syndrome, Williams defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Contiguous Gene Syndrome, Williams
| Contiguous Gene Syndrome, Williams Medical Condition |
|---|
What's The Definition Of The Medical Condition Contiguous Gene Syndrome, Williams?
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
- Rod Outer Segment ‐ The portion of the retinal rod cell between the inner segment…
- Reagent, Tillmans ‐ A dye used as a reagent in the determination of…
- Infections, Hospital ‐ Any infection which a patient contracts in a health-care…
- Infection, Reproductive Tract ‐ Invasion and multiplication of microorganisms in body tissues,…
- Vascular Prosthesis ‐ Prosthesis, constructed of either synthetic or biological material,…
- Cements, Dental ‐ Substances used as bonding or luting agents in restorative dentistry,…
- Bonding ‐ Emotional attachment to someone or something in the…
- Scleroses, Primary Lateral ‐ Diseases characterized by a selective degeneration of the motor…
- BAY-a-1040 ‐ A potent vasodilator agent with calcium antagonistic action.…
- MSA-1 Protein ‐ A surface protein found on Plasmodium species which induces a…