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SHORT syndrome

Orpha number ORPHA3163
Synonym(s) Aarskog-Ose-Pande syndrome
Lipodystrophy - Rieger anomaly - diabetes
Rieger anomaly - partial lipodystrophy
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Infancy
Neonatal
ICD-10
  • Q87.1
ICD-O -
OMIM
UMLS
  • C0878684
MeSH
  • C537327
MedDRA -

Summary

'SHORT' represents an acronym for a syndrome associating short stature (S), hyperextensibility of joints or hernia (inguinal) or both (H), ocular depression (O), Rieger anomaly (R), and teething delay (T). This rare association has been described in less than 20 patients worldwide. Rieger anomaly is characterized by hypoplasia (underdevelopment) of the iris as well as iris strands to the peripheral cornea. Half of the affected patients will develop glaucoma. Some patients also have abnormally situated pupils (corectopia), slit pupils, or even multiple pupils (polycoria). Patients also present with a characteristic triangular face with small facial bones, deep-set eyes, mid-face hypoplasia, thin nasal alae, and micrognathia. Lipoatrophy or dystrophy of the face and limbs have been described in some patients, as well as insulino-resistant diabetes and polycystic ovaries. The short stature is accompanied by delayed bone age and developmental delay. Sensorineural hearing loss has been reported in some cases. Thin, dry, and wrinkled skin produces a progeroid appearance. The occurrence of familial cases spanning multiple generations, reports of equally affected male and female patients, and the male-to-male transmission suggest an autosomal dominant mode of inheritance, possibly with germline mosaicism in cases involving affected sibs and unaffected parents.


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Detailed information

Clinical genetics review
  • EN (2014)
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