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SHORT syndrome

Rainer Koenig1, Leticia Brendel, Sigrun Fuchs

  • 1Institute of Human Genetics, Johann Wolfgang Goethe University, Theodor-Stern-Kai 7, 60590 Frankfurt, Germany. r.koenig@em.uni-frankfurt.de

Clinical Dysmorphology
|January 7, 2003
PubMed

Insights

This study details a mother and son exhibiting SHORT syndrome features, including short stature and progeroid facies. Findings suggest an autosomal dominant inheritance pattern for this rare genetic condition.

Area of Science:

  • Genetics
  • Pediatrics
  • Endocrinology

Background:

  • SHORT syndrome is a rare genetic disorder characterized by specific physical and developmental features.
  • Understanding its inheritance pattern is crucial for genetic counseling and diagnosis.

Observation:

  • A familial case involving a mother and son presented with classic SHORT syndrome manifestations: short stature, progeroid facies, Rieger anomaly, delayed teething, and developmental delays.
  • Patients also exhibited a slight build with reduced subcutaneous fat.
  • Insulin resistance was suspected in the mother based on an oral glucose tolerance test.

Findings:

  • The described symptoms align with characteristic features of SHORT syndrome.
  • The presence of five familial cases across generations, with equal male and female involvement and male-to-male transmission, strongly indicates an autosomal dominant inheritance pattern.
  • While insulin resistance was suggested in the mother, the index patient's test was normal at a young age.

Implications:

  • This research reinforces the diagnostic criteria for SHORT syndrome.
  • The confirmed autosomal dominant inheritance has significant implications for genetic counseling and family planning.
  • Further research may elucidate the variable expressivity of metabolic complications like insulin resistance in SHORT syndrome.

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