About The Medical Condition Rubinstein Syndrome
Find the definition of the medical term Rubinstein Syndrome. Rubinstein Syndrome defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Rubinstein Syndrome
| Rubinstein Syndrome Medical Condition |
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What's The Definition Of The Medical Condition Rubinstein Syndrome?
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).
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