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SHOX-related short stature(ISS)

MedGen UID:
375584
Concept ID:
C1845118
Congenital Abnormality
Synonym: Short stature, idiopathic, X-linked
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): SHOX (Xp22.33;Yp11.2)
 
Monarch Initiative: MONDO:0010367
OMIM®: 300582
Orphanet: ORPHA314795

Definition

Idiopathic short stature is usually defined as a height below the third percentile for chronological age or minus 2 standard deviations (SD) of national height standards in the absence of specific causative disorders (Rao et al., 1997). For a discussion of genetic heterogeneity of quantitative trait loci for stature, see STQTL1 (606255). [from OMIM]

Clinical features

From HPO
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSHOX-related short stature
Follow this link to review classifications for SHOX-related short stature in Orphanet.

Recent clinical studies

Diagnosis

Alexandrou A, Papaevripidou I, Tsangaras K, Alexandrou I, Tryfonidis M, Christophidou-Anastasiadou V, Zamba-Papanicolaou E, Koumbaris G, Neocleous V, Phylactou LA, Skordis N, Tanteles GA, Sismani C
J Genet 2016 Dec;95(4):839-845. doi: 10.1007/s12041-016-0698-y. PMID: 27994182

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