Rubinstein-Taybi Syndrome


Broad Thumb Hallux Syndrome

Broad Thumb-Hallux Syndrome

Broad Thumb-Hallux Syndromes

Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation

Rubinstein Syndrome

Rubinstein Taybi Syndrome

Syndrome, Broad Thumb-Hallux

Syndrome, Rubinstein

Syndrome, Rubinstein-Taybi

Syndromes, Broad Thumb-Hallux

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).