ORPHA:15
Achondroplasia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A primary bone dysplasia with micromelia characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Achondroplasia | |
| fr | Achondroplasie | |
| de | Achondroplasie | |
| es | Acondroplasia | |
| it | Acondroplasia | |
| nl | Achondroplasie | |
| pt | Acondroplasia | Nanismo acondroplástico |
| pl | Achondroplazja | |
| cs | Achondroplázie | |
| uk | Ахондроплазія | |
| zh | 软骨发育不全 | |
| tr | Akondroplazi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 100800 | E | validated | |
| ICD-10 | Q77.4 | E | specific | validated |
| ICD-11 | LD24.00 | E | specific | validated |
| MONDO | 0007037 | E | validated | |
| MeSH | D000130 | E | validated | |
| UMLS | C0001080 | E | validated | |
| GARD | 8173 | E | validated | |
| MedDRA | 10000452 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
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.
4
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 | 23149434[PMID] |
5
Prevalence and incidence
31 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 4.73 / 100 000 | Worldwide | Value and class | Validated | 32803853[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3.62 / 100 000 | Europe | Value and class | Validated | 32803853[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 5.645 / 100 000 | France | Value and class | Validated | 32803853[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 3.7 / 100 000 | Italy | Value and class | Validated | 3071354[PMID]_[EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 4.195 / 100 000 | Sweden | Value and class | Validated | 32803853[PMID]_[ORPHANET] |
| Prevalence at birth | 1-9 / 100 000 | 2.6466 / 100 000 | Spain | Value and class | Validated | 32803853[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.37 / 100 000 | Denmark | Value and class | Validated | 32803853[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3.2 / 100 000 | Latin America | Value and class | Validated | 32803853[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3.8 / 100 000 | Australia | Value and class | Validated | 458831[PMID]_[EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 3.63 / 100 000 | Switzerland | Value and class | Validated | 32803853[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3.7877 / 100 000 | United Kingdom | Value and class | Validated | 32803853[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 6 / 100 000 | Ukraine | Value and class | Validated | 32803853[PMID] |
| Prevalence at birth | 6-9 / 10 000 | 79.05 / 100 000 | Iraq | Value and class | Validated | 32803853[PMID]_ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 36.73 / 100 000 | Iran, Islamic Republic of | Value and class | Validated | 32803853[PMID]_ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 12.92 / 100 000 | Kuwait | Value and class | Validated | 32803853[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 25.87 / 100 000 | Lebanon | Value and class | Validated | 32803853[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 48.14 / 100 000 | Saudi Arabia | Value and class | Validated | 32803853[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 10.51 / 100 000 | United Arab Emirates | Value and class | Validated | 32803853[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 16.53 / 100 000 | Cameroon | Value and class | Validated | 32803853[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 4 / 100 000 | North America | Value and class | Validated | 32803853[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 4.42 / 100 000 | Cuba | Value and class | Validated | 32803853[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 6.75 / 100 000 | Mexico | Value and class | Validated | 32803853[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 4.75 / 100 000 | Argentina | Value and class | Validated | 32803853[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 14.25 / 100 000 | Venezuela | Value and class | Validated | 32803853[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 4.76 / 100 000 | Germany | Value and class | Validated | 32803853[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 6.35 / 100 000 | Malta | Value and class | Validated | 32803853[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3.01 / 100 000 | Netherlands | Value and class | Validated | 32803853[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.39 / 100 000 | Norway | Value and class | Validated | 32803853[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 4.47 / 100 000 | Poland | Value and class | Validated | 32803853[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 18.11 / 100 000 | Nigeria | Value and class | Validated | 32803853[PMID]_ORPHANET |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 32803853[PMID]_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.
6
HPO phenotypes
39 annotations · validated 2020-02-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002979 | Bowing of the legs | |
| HP:0003498 | Disproportionate short stature | |
| HP:0002808 | Kyphosis | |
| HP:0009826 | Limb undergrowth | |
| HP:0005619 | Thoracolumbar kyphosis | |
| Frequent (79-30%) | ||
| HP:0000309 | Abnormal midface morphology | |
| HP:0000463 | Anteverted nares | |
| HP:0001156 | Brachydactyly | |
| HP:0010536 | Central sleep apnea | |
| HP:0008445 | Cervical spinal canal stenosis | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0008947 | Floppy infant | |
| HP:0002007 | Frontal bossing | |
| HP:0011452 | Functional abnormality of the middle ear | |
| HP:0000365 | Hearing impairment | |
| HP:0045087 | Hip joint hypermobility | |
| HP:0045086 | Knee joint hypermobility | |
| HP:0001377 | Limited elbow extension | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0000256 | Macrocephaly | |
| HP:0002870 | Obstructive sleep apnea | |
| HP:0000242 | Parietal bossing | |
| HP:0003026 | Short long bone | |
| HP:0005819 | Short middle phalanx of finger | |
| HP:0003194 | Short nasal bridge | |
| HP:0010241 | Short proximal phalanx of finger | |
| HP:0003416 | Spinal canal stenosis | |
| HP:0004060 | Trident hand | |
| Occasional (29-5%) | ||
| HP:0011867 | Abnormality of the wing of the ilium | |
| HP:0000956 | Acanthosis nigricans | |
| HP:0003180 | Flat acetabular roof | |
| HP:0012418 | Hypoxemia | |
| HP:0003375 | Narrow greater sciatic notch | |
| HP:0001513 | Obesity | |
| HP:0002091 | Restrictive ventilatory defect | |
| HP:0008905 | Rhizomelia | |
| HP:0005257 | Thoracic hypoplasia | |
| HP:0000260 | Wide anterior fontanel | |
| Very rare (<4-1%) | ||
| HP:0000238 | Hydrocephalus | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 20301331[PMID]_31497119[PMID]_31727132[PMID]_29185944[PMID]_30606190[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/15
- This record as JSON: /data/d/15.json