ORPHA:429
Hypochondroplasia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
- Status
- active
A primary bone dysplasia with micromelia characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypochondroplasia | |
| fr | Hypochondroplasie | |
| de | Hypochondroplasie | |
| es | Hipoacondroplasia | |
| it | Ipocondroplasia | |
| nl | Hypochondroplasie | |
| pt | Hipocondroplasia | |
| pl | Hipochondroplazja | |
| cs | Hypochondroplázie | |
| uk | Гіпохондроплазія | |
| zh | 软骨发育不良 | |
| tr | Hipokondroplasi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 146000 | E | validated | |
| ICD-10 | Q77.4 | NTBT | inclusion | validated |
| ICD-11 | LD24.01 | E | specific | validated |
| MONDO | 0007793 | E | validated | |
| MeSH | C562937 | E | validated | |
| UMLS | C0410529 | E | validated | |
| GARD | 6724 | E | validated | |
| MedDRA | 10020967 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:93420FGFR3-related chondrodysplasia
rare genetic diseases - ORPHA:364536Primary bone dysplasia with micromelia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FGFR3 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:3690 | ENSG00000068078 | 134934 | 4p16.3 | fibroblast growth factor receptor 3 | 20301650[PMID]_23149434[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3.0303 / 100 000 | Worldwide | Value and class | Validated | 20301650[PMID]_33051983[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.0303 / 100 000 | Worldwide | Value and class | Validated | 20301650[PMID]_33051983[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
20 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0001156 | Brachydactyly | |
| HP:0011405 | Childhood onset short-limb short stature | |
| HP:0002983 | Micromelia | |
| HP:0001831 | Short toe | |
| HP:0002652 | Skeletal dysplasia | |
| Frequent (79-30%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0002823 | Abnormality of femur morphology | |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | |
| HP:0009811 | Abnormality of the elbow | |
| HP:0002970 | Genu varum | |
| HP:0001382 | Joint hypermobility | |
| Occasional (29-5%) | ||
| HP:0006487 | Bowing of the long bones | |
| HP:0003307 | Hyperlordosis | |
| HP:0001249 | Intellectual disability | |
| HP:0000256 | Macrocephaly | |
| HP:0002758 | Osteoarthritis | |
| HP:0002650 | Scoliosis | |
| HP:0010535 | Sleep apnea | |
| HP:0003416 | Spinal canal stenosis | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/429
- This record as JSON: /data/d/429.json