SHORT syndrome

Disease Overview

SHORT syndrome is a condition characterized by multiple abnormalities that affect several parts of the body. The term SHORT is an acronym with each letter representing a common feature in affected individuals: (S) short stature; (H) hyperextensibility of joints and/or hernia (inguinal); (O) ocular depression (deep-set eyes); (R) Rieger anomaly (defective development of the anterior chamber of the eye that can lead to glaucoma); and (T) teething delay. Other features commonly present include a triangular face, small chin with a dimple, loss of fat under the skin (lipodystrophy), abnormal position of the ears, hearing loss and delayed speech.[4606] It is caused by mutations in the PIK3R1 gene. Inheritance is autosomal dominant. Treatment focuses on the specific symptoms present in each individual.[10854]

Synonyms

• Short stature, Hyperextensibility, Hernia, Ocular depression, Rieger anomaly and Teething delay
• Aarskog-Ose-Pande syndrome
• Partial lipodystrophy with Rieger anomaly and short stature