Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare disorder characterized by multiple congenital anomalies. The name is a mneumonic for the common features observed in SHORT syndrome that include; short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay. Other common manifestations of SHORT syndrome are mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and a recognizable facial gestalt. Disease data Classification Malformation syndrome Synonyms Lipodystrophy-Rieger anomaly-diabetes syndrome Anomalia Riegera - częściowa lipodystrofia Lipodystrofia - anomalia Riegera - cukrzyca Zespół Aarskoga,Osego i Pande Rieger anomaly-partial lipodystrophy syndrome ORPHA code 3163 OMIM code 269880 ICD10 code Q87.1 ICD11 code LD27.6Z *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl