About The Medical Condition Syndrome, Rubinstein-Taybi
Find the definition of the medical term Syndrome, Rubinstein-Taybi. Syndrome, Rubinstein-Taybi defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Syndrome, Rubinstein-Taybi
| Syndrome, Rubinstein-Taybi Medical Condition |
|---|
What's The Definition Of The Medical Condition Syndrome, Rubinstein-Taybi?
A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).
|
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
- ATPases, Bacterial Proton-Translocating ‐ Membrane-bound proton-translocating ATPases that serve two important…
- Hyperkalemia ‐ Abnormally high potassium concentration in the blood, most often…
- Enhancer Elements (Genetics) ‐ Cis-acting DNA sequences which can increase transcription of…
- Syndrome, Myofascial Pain ‐ Muscular pain in numerous body regions that can be reproduced…
- IgG ‐ The major immunoglobulin in normal…
- Nafcillin, Monosodium Salt, Anhydrous ‐ A semi-synthetic antibiotic related to…
- Disorders, Adjustment ‐ Maladaptive reactions to identifiable psychosocial stressors…
- Software Validations ‐ The act of testing the software for compliance with a…
- Luteoma ‐ A benign ovarian tumor of granulosa or theca-lutein cell origin,…
- Test, Carcinogen ‐ Tests to experimentally measure the tumor-producing/cancer cell-producing…