ACMG practice guideline: Genetic evaluation of short stature

Laurie H. Seaver, Mira Irons

Research output: Contribution to journalReview articlepeer-review

52 Scopus citations


Short stature is a common indication for genetic evaluation. The differential diagnosis is broad and includes both pathologic causes of short stature and nonpathologic causes. The purpose of genetic evaluation for short stature is to provide accurate diagnosis for medical management and to provide prognosis and recurrence risk counseling for the patient and family. There is no evidence-based data to guide the geneticist in an efficient, cost-effective approach to the evaluation of a patient with short stature. This guideline provides a rubric for the evaluation of short stature evaluation and summarizes common diagnoses and clinical testing available.

Original languageEnglish (US)
Pages (from-to)465-470
Number of pages6
JournalGenetics in Medicine
Issue number6
StatePublished - Jun 2009
Externally publishedYes


  • Intrauterine growth restriction
  • Short stature
  • Skeletal dysplasia

ASJC Scopus subject areas

  • Genetics(clinical)


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