SHORT syndrome
SHORT Syndrome
SHORT Syndrome (pronounced: /ʃɔːrt/ SYNDROME) is a rare genetic disorder characterized by multiple anomalies. The term SHORT is an acronym derived from the major features of the syndrome: Short stature, Hyperextensibility of joints or hernia, Ocular depression, Rieger anomaly, and Teething delay.
Etymology
The term SHORT Syndrome was first coined in 1975 by Gorlin et al., who used the first letters of the major features to name the syndrome.
Clinical Features
Short Stature
Short stature short stature is a common feature of SHORT syndrome. It is usually noticeable at birth and continues throughout life.
Hyperextensibility of Joints or Hernia
Hyperextensibility of joints hyperextensibility or hernia hernia is another characteristic of this syndrome. This means that the joints can move beyond the normal range of motion.
Ocular Depression
Ocular depression, also known as sunken eyes sunken eyes, is a common feature of SHORT syndrome. This is due to a lack of fat around the eyes.
Rieger Anomaly
Rieger anomaly Rieger anomaly is a rare eye disorder that is often associated with SHORT syndrome. It can cause various eye abnormalities, including glaucoma.
Teething Delay
Teething delay teething delay is another common feature of SHORT syndrome. This means that the teeth appear later than they normally would.
Genetics
SHORT Syndrome is caused by mutations in the PIK3R1 gene PIK3R1 gene. This gene provides instructions for making a protein that is involved in signaling pathways that control cell growth and division.
Diagnosis
Diagnosis of SHORT Syndrome is based on clinical features and confirmed by genetic testing genetic testing.
Treatment
Treatment for SHORT Syndrome is symptomatic and supportive. This may include physical therapy for joint hyperextensibility, treatment for eye abnormalities, and dental care for delayed teething.
See Also
External links
- Medical encyclopedia article on SHORT syndrome
- Wikipedia's article - SHORT syndrome
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