Rubinstein-Taybi Syndrome
Synonyms
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).
See Also