Number of the records: 1
Rubinsteinov-Taybiho syndróm
Record number d012415 Date 06.06.2025 Type M - MESH Topical term Rubinsteinov-Taybiho syndróm Other term English (Pseudonym) Broad Thumb-Hallux Syndrome
Slovak (Pseudonym) syndróm veľkých palcov na všetkých končatinách
See also (Skutočné meno) postihnutie intelektuálne
UDC C05.116.099.370.797C05.660.207.850C10.597.606.360.700C16.131.077.804C16.131.260.790C16.131.621.207.850C16.320.180.790 Note 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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Number of the records: 1