Pseudodiastrophic dysplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pseudodiastrophic dysplasia | |
| fr | Dysplasie pseudodiastrophique | |
| de | Dysplasie, pseudodiastrophische | |
| es | Displasia pseudodiastrófica | |
| it | Displasia pseudodiastrofica | |
| nl | Pseudodiastrofische dysplasie | |
| pt | Displasia pseudodiastrófica | |
| pl | Dysplazja pseudodiastroficzna | |
| cs | Pseudodiastrofická dysplázie | |
| uk | Псевдодіастрофічна дисплазія | |
| zh | 假性骨弯曲畸形发育不良 | |
| tr | Psödodiastrofik displazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 264180 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.E | NTBT | index | validated |
| MONDO | 0009914 | E | validated | |
| MeSH | C535826 | E | validated | |
| UMLS | C0432206 | E | validated | |
| GARD | 9463 | 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 (2):
- ORPHA:93441Primary bone dysplasia with multiple joint dislocations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:139030Rare developmental defect with connective tissue involvement
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 26754439[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26754439[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.
HPO phenotypes
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003042 | Elbow dislocation | |
| HP:0000272 | Malar flattening | |
| HP:0006243 | Phalangeal dislocation | |
| HP:0000926 | Platyspondyly | |
| HP:0008905 | Rhizomelia | |
| HP:0002650 | Scoliosis | |
| HP:0001762 | Talipes equinovarus | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0001539 | Omphalocele | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85174
- This record as JSON: /data/d/85174.json