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Short Stature Homeobox Deficiency

MedGen UID:
856639
•Concept ID:
C3897045
•
Disease or Syndrome
Synonym: SHOX Deficiency

Definition

A rare genetic deficiency characterized by mutations in the SHOX gene and reduced expression or function of the SHOX protein. It results in the disruption of normal bone development and growth starting before birth. It manifests with skeletal abnormalities and short stature. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVShort Stature Homeobox Deficiency

Professional guidelines

PubMed

Pediatric growth hormone treatment in Italy: A systematic review of epidemiology, quality of life, treatment adherence, and economic impact.
Orso M, Polistena B, Granato S, Novelli G, Di Virgilio R, La Torre D, d'Angela D, Spandonaro F
PLoS One 2022;17(2):e0264403. Epub 2022 Feb 25 doi: 10.1371/journal.pone.0264403. PMID: 35213607Free PMC Article
Short stature due to SHOX deficiency: genotype, phenotype, and therapy.
Binder G
Horm Res Paediatr 2011 Feb;75(2):81-9. Epub 2011 Feb 4 doi: 10.1159/000324105. PMID: 21325865
Pharmacogenomics and pharmacoproteomics in the evaluation and management of short stature.
Rosenfeld RG
Eur J Endocrinol 2007 Aug;157 Suppl 1:S27-31. doi: 10.1530/EJE-07-0186. PMID: 17785693

Recent clinical studies

Etiology

Growth hormone prescribing patterns in the UK, 2013-2016.
Shepherd S, Saraff V, Shaw N, Banerjee I, Patel L
Arch Dis Child 2019 Jun;104(6):583-587. Epub 2018 Dec 19 doi: 10.1136/archdischild-2018-316262. PMID: 30567827

Therapy

Growth hormone prescribing patterns in the UK, 2013-2016.
Shepherd S, Saraff V, Shaw N, Banerjee I, Patel L
Arch Dis Child 2019 Jun;104(6):583-587. Epub 2018 Dec 19 doi: 10.1136/archdischild-2018-316262. PMID: 30567827

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