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SHORT syndrome
rareA rare disorder characterized by multiple congenital anomalies, including short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay in which the cause of the disease is a mutation in PIK3R1 gene. Other common manifestations of SHORT syndrome are mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and a recognizable facial gestalt.
- Identifiers
- MONDO:0010026 OMIM:269880Orphanet:3163
- Part of
- PIK3R1-related immunodeficiency and SHORT syndromeDevelopmental anomaly of metabolic originEye disorderHereditary lipodystrophyMultiple congenital anomalies/dysmorphic syndrome without intellectual disabilityMultiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndromeSyndromic disease
- Also known as
- Aarskog-Ose-Pande syndrome · lipodystrophy-Rieger anomaly-diabetes syndrome · partial lipodystrophy with Rieger anomaly and short stature · Rieger anomaly-partial lipodystrophy syndrome · short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly and teething delay
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