title: Genetic evaluation of short stature.
abstract: BACKGROUND
  Genetics plays a major role in determining an individual's height. Although there are many monogenic disorders that lead to perturbations in growth and result in short stature, there is still no consensus as to the role that genetic diagnostics should play in the evaluation of a child with short stature.
  
  
  METHODS
  A search of PubMed was performed, focusing on the genetic diagnosis of short stature as well as on specific diagnostic subgroups included in this article. Consensus guidelines were reviewed.
  
  
  RESULTS
  There are a multitude of rare genetic causes of severe short stature. There is no high-quality evidence to define the optimal approach to the genetic evaluation of short stature. We review genetic etiologies of a number of diagnostic subgroups and propose an algorithm for genetic testing based on these subgroups.
  
  
  CONCLUSIONS
  Advances in genomic technologies are revolutionizing the diagnostic approach to short stature. Endocrinologists must become facile with the use of genetic testing in order to identify the various monogenic disorders that present with short stature.
authors.affiliation: Division of Endocrinology (A.D., J.N.H.), Boston Children's Hospital, Boston, Massachusetts 02115; Broad Institute (A.D., J.N.H.), Cambridge, Massachusetts 02142; Department of Pediatrics (R.G.R.), Oregon Health & Science University, Portland, Oregon 97239; Division of Genetics (J.N.H.), Boston Children's Hospital, Boston, Massachusetts 02115; and Departments of Genetics and Pediatrics (J.N.H.), Harvard Medical School, Boston, Massachusetts 02115.
authors.forename: Andrew
authors.initials: A
authors.lastname: Dauber
authors.forename: Ron G
authors.initials: RG
authors.lastname: Rosenfeld
authors.forename: Joel N
authors.initials: JN
authors.lastname: Hirschhorn
mesh_terms: D000465:Algorithms; D001827:Body Height / Q000235:genetics*; D004704:Endocrinology / Q000592:standards; D005820:Genetic Testing; D023281:Genomics; D006130:Growth Disorders / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D017410:Practice Guidelines as Topic