SHORT syndrome

Orpha code: 3163OMIM code: 269880

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

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl