Rare disease: SHORT Syndrome
SHORT syndrome; a rare condition is characterized by multiple birth defects in various organ systems of the affected individual.
The syndrome is self-explanatory with each letter of SHORT syndrome represents one of the common findings in affected persons:
(S) = short stature
(H) = hyperextensibility of joints and/or hernia (inguinal)
(O) = ocular depression (deep-set eyes)
(R) = Rieger anomaly (defective development of the eye that often leads to glaucoma)
(T) = teething delay
However, not all of these five features are required to diagnose the condition.
Synonyms of SHORT Syndrome
Aarskog-Ose-Pande syndrome
lipodystrophy-Rieger anomaly-diabetes syndrome
Rieger anomaly-partial lipodystrophy syndrome
PIK3R1-associated syndromic insulin resistance with lipoatrophy
Symptoms
Symptoms include additional or distinctive facial features such as small, triangular-shaped face; prominent forehead; large ears; abnormal positioning of the ears; underdeveloped (hypoplastic) or thin nostrils; and thin, wrinkled skin that gives the impression of premature aging.
Intelligence is often normal, but speech delay and other developmental delays are also seen in affected individual during childhood.
Affected infants have difficulty gaining weight and are prone to illnesses. Hearing loss is common. Individuals may also develop diabetes in the second decade of life
Causes
SHORT syndrome is a genetic disorder and inherited in an autosomal dominant pattern. For such type of inheritance, one abnormal copy of the causative gene is sufficient to cause signs and symptoms of the syndrome.
Diagnosis
Diagnosis is confirmed with the genetic testing showing a mutation in the PIK3R1 gene. In general, the facial features allow to make a suspicion of the diagnosis. The features most consistently observed in SHORT syndrome affected individuals include:
Intrauterine growth restriction (IUGR)
Partial lipodystrophy
Short stature
Facial characteristics
Axenfeld-Rieger anomaly or related eye anomalies
Delayed dentition
Diabetes
Treatment:
Treatment is often symptomatic. No treatment is available for the condition.
Read more https://wcts.app/ShortSyndrome








