Source:http://linkedlifedata.com/resource/umls/id/C0035934
MSH: 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).,NCI: A rare genetic syndrome mapped to chromosome 16p13.3 and associated with mutations in the CREBBP gene. It is characterized by mental and growth retardation, distinctive facial features (prominent nose, low-set ears, microcephaly, and small mouth), and broad thumbs and great toes. Patients are at an increased risk of developing benign and malignant neoplasms, including nervous system neoplasms and malignant lymphoproliferative disorders.,JABL: A syndrome of broad thumbs and halluces, typical dysmorphic facies, delayed mental and physical development, pulmona