SHOX-related short stature
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | SHOX-related short stature | |
| fr | Petite taille associée à SHOX | |
| de | Kleinwuchs, Shox-bedingter | |
| es | Talla baja asociada al gen SHOX | |
| it | Bassa statura SHOX-correlata | |
| nl | Shox-gerelateerde kleine gestalte | |
| pt | Baixa estatura SHOX-relacionada | |
| pl | Niski wzrost związany z SHOX | |
| cs | Malý vzrůst způsobený mutacemi v SHOX genu | |
| uk | Низькорослість, повязана з SHOX | |
| zh | SHOX基因相关身材矮小 | |
| tr | SHOX -ilişkili kısa boy |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300582 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD24.A | NTBT | attributed | validated |
| MONDO | 0010367 | E | validated | |
| UMLS | C4706613 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:93438Mesomelic and rhizo-mesomelic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SHOX | Disease-causing germline mutation(s) in | Assessed | HGNC:10853 | ENSG00000185960 | 312865 | Xp22.33 and Yp11.32 | SHOX homeobox | 26698168[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
16 annotations · validated 2015-12-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002967 | Cubitus valgus | |
| HP:0005974 | Episodic ketoacidosis | |
| HP:0009821 | Forearm undergrowth | |
| HP:0002857 | Genu valgum | |
| HP:0000218 | High palate | |
| HP:0009816 | Lower limb undergrowth | |
| HP:0003067 | Madelung deformity | |
| HP:0000347 | Micrognathia | |
| HP:0002650 | Scoliosis | |
| HP:0001773 | Short foot | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0003712 | Skeletal muscle hypertrophy | |
| HP:0002982 | Tibial bowing | |
| HP:0005856 | Ulnar radial head dislocation | |
| Frequent (79-30%) | ||
| HP:0001513 | Obesity | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 8558868[PMID]_1640423[PMID]_22791839[PMID]_2602357[PMID]_20301394[PMID]_17182655[PMID]_14557470[PMID]_9140395[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314795
- This record as JSON: /data/d/314795.json