ORPHA:750
Pseudoachondroplasia
Synonyms: Pseudoachondroplastic dysplasia · Pseudoachondroplastic spondyloepiphyseal dysplasia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pseudoachondroplasia | Pseudoachondroplastic dysplasia · Pseudoachondroplastic spondyloepiphyseal dysplasia |
| fr | Pseudoachondroplasie | Dysplasie pseudoachondroplasique |
| de | Pseudoachondroplasie | |
| es | Pseudoacondroplasia | Displasia espondiloepifisaria pseudoacondroplásica · Displasia pseudoacondroplásica |
| it | Pseudoacondroplasia | Displasia pseudoacondroplasica · Displasia spondiloepifisaria pseudoacondroplasica |
| nl | Pseudoachondroplasie | Pseudoachondroplastische dysplasie · Pseudoachondroplastische spondylo-epifysaire dysplasie |
| pt | Pseudo-acondroplasia | |
| pl | Pseudoachondroplazja | Dysplazja pseudoachondroplastyczna · Pseudoachondroplastyczna dysplazja kręgowo-przynasadowa |
| cs | Pseudoachondroplázie | Pseudoachondroplastická dysplázie · Pseudoachondroplastická spondyloepifyzární dysplázie |
| uk | Псевдоахондроплазія | Псевдоахондропластична дисплазія · Псевдоахондропластична спондилоепіфізарна дисплазія |
| zh | 假性软骨发育不全 | 假性软骨发育不全性脊椎骨骺发育不良 |
| tr | Psödoakondroplazi | Psödoakondroplastik displazi · Psödoakondroplastik spondiloepifizyal displazi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 177170 | E | validated | |
| ICD-10 | Q77.8 | NTBT | attributed | validated |
| ICD-11 | LD24.60 | E | specific | validated |
| MONDO | 0008322 | E | validated | |
| MeSH | C535819 | E | validated | |
| UMLS | C0410538 | E | validated | |
| GARD | 4540 | 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 (1):
- ORPHA:93429Multiple epiphyseal dysplasia and pseudoachondroplasia
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 |
|---|---|---|---|---|---|---|---|---|
| COMP | Disease-causing germline mutation(s) in | Assessed | HGNC:2227 | ENSG00000105664 | 600310 | 19p13.11 | cartilage oligomeric matrix protein | 20301660[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 3.3 / 100 000 | Worldwide | Value and class | Not yet validated | 20301660[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
45 annotations · validated 2020-06-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008873 | Disproportionate short-limb short stature | |
| HP:0001382 | Joint hypermobility | |
| Frequent (79-30%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0002829 | Arthralgia | |
| HP:0001156 | Brachydactyly | |
| HP:0002663 | Delayed epiphyseal ossification | |
| HP:0020152 | Distal joint hypermobility | |
| HP:0002761 | Generalized joint hypermobility | |
| HP:0006149 | Increased laxity of fingers | |
| HP:0010582 | Irregular epiphyses | |
| HP:0045086 | Knee joint hypermobility | |
| HP:0009826 | Limb undergrowth | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0003025 | Metaphyseal irregularity | |
| HP:0003016 | Metaphyseal widening | |
| HP:0002758 | Osteoarthritis | |
| HP:0000926 | Platyspondyly | |
| HP:0003026 | Short long bone | |
| HP:0009803 | Short phalanx of finger | |
| HP:0005720 | Shortening of all metacarpals | |
| HP:0002515 | Waddling gait | |
| HP:0100531 | Wind-swept deformity of the knees | |
| Occasional (29-5%) | ||
| HP:0009107 | Abnormal ossification involving the femoral head and neck | |
| HP:0006499 | Abnormality of femoral epiphysis | |
| HP:0008807 | Acetabular dysplasia | |
| HP:0004568 | Beaking of vertebral bodies | |
| HP:0010579 | Cone-shaped epiphysis | |
| HP:0003015 | Flared metaphysis | |
| HP:0003180 | Flat acetabular roof | |
| HP:0002857 | Genu valgum | |
| HP:0002970 | Genu varum | |
| HP:0003090 | Hypoplasia of the capital femoral epiphysis | |
| HP:0008839 | Hypoplastic pelvis | |
| HP:0006460 | Increased laxity of ankles | |
| HP:0008833 | Irregular acetabular roof | |
| HP:0004236 | Irregular carpal bones | |
| HP:0001387 | Joint stiffness | |
| HP:0001377 | Limited elbow extension | |
| HP:0003093 | Limited hip extension | |
| HP:0002650 | Scoliosis | |
| HP:0100864 | Short femoral neck | |
| HP:0003756 | Skeletal myopathy | |
| HP:0010585 | Small epiphyses | |
| Very rare (<4-1%) | ||
| HP:0010646 | Cervical spine instability | |
| HP:0003311 | Hypoplasia of the odontoid process | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 20301660[PMID]_29530484[PMID]_21922596[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/750
- This record as JSON: /data/d/750.json