SHORT syndrome

Orpha code: 3163OMIM code: 269880

Definicja

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
Klasyfikacja

Malformation syndrome

Synonimy
Lipodystrophy-Rieger anomaly-diabetes syndrome
Anomalia Riegera - częściowa lipodystrofia
Lipodystrofia - anomalia Riegera - cukrzyca
Zespół Aarskoga,Osego i Pande
Rieger anomaly-partial lipodystrophy syndrome
Kod ORPHA
3163
Kod OMIM
269880
Kod ICD10
Q87.1
Kod ICD11
LD27.6Z

No additional description.

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