| umls-concept:C3489726 | skos:definition | JABL: A syndrome characterized by a smiling or happy facial expression (hence the adjective "geleophysic" from Greek gelios, laughing + physis, nature), short stature, brachydactyly, and dysostosis multiplex-like changes in the hands and feet. Infiltration of heart valves and liver with mucopolysaccharide-like substance has been demonstrated in some patients. Mild developmental delay is associated in some cases, but speech retardation may be attributed to hearing problems. Psychomotor retardation is an occasional feature. | lld:umls |
