《英文msh詞典》Rubinstein Taybi Syndrome
[入口詞] Rubinstein Taybi Syndrome
[主題詞] Rubinstein-Taybi Syndrome
[英文釋義] 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).