Pseudodiastrophic dysplasia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 26 |
| OrphanetNr: | 85174 |
| OMIM Id: |
264180
|
| ICD-10: |
Q78.8 |
| UMLs: |
C0432206 |
| MeSH: |
C535826 |
| MedDRA: |
|
| Snomed: |
254058002 |
Prevalence, inheritance and age of onset:
| Prevalence: | 10 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Malformation syndrome with connective tissue involvement
-Rare developmental defect during embryogenesis -Rare genetic disease Primary bone dysplasia with multiple joint dislocations -Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
|
|
(HPO:0000272) | Malar flattening | Very frequent [Orphanet] | 277 / 7739 | |||
|
|
(HPO:0011800) | Midface retrusion | 221 / 7739 | ||||
|
|
(HPO:0001373) | Joint dislocation | Very frequent [Orphanet] | 59 / 7739 | |||
|
|
(HPO:0000926) | Platyspondyly | 150 / 7739 | ||||
|
|
(HPO:0005680) | Tongue-like lumbar vertebral deformities | 1 / 7739 | ||||
|
|
(HPO:0003312) | Abnormal form of the vertebral bodies | Very frequent [Orphanet] | 172 / 7739 | |||
|
|
(HPO:0002650) | Scoliosis | Very frequent [Orphanet] | 705 / 7739 | |||
|
|
(HPO:0008905) | Rhizomelia | 85 / 7739 | ||||
|
|
(HPO:0001762) | Talipes equinovarus | 309 / 7739 | ||||
|
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(HPO:0003311) | Hypoplasia of the odontoid process | 34 / 7739 | ||||
|
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(HPO:0002938) | Lumbar hyperlordosis | 73 / 7739 | ||||
|
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(HPO:0003042) | Elbow dislocation | Very frequent [Orphanet] | 89 / 7739 | |||
|
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(HPO:0006243) | Phalangeal dislocation | 3 / 7739 | ||||
|
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(HPO:0001539) | Omphalocele | Occasional [Orphanet] | 102 / 7739 | |||
|
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(HPO:0003510) | Severe short stature | 90 / 7739 | ||||
|
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(HPO:0030680) | Abnormality of cardiovascular system morphology | Occasional [Orphanet] | 355 / 7739 | |||
|
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(HPO:0001945) | Fever | 218 / 7739 | ||||
|
|
(OMIM) | C1-C2 dislocation | 2 / 7739 | ||||
|
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(OMIM) | Enlarged bitemporal diameter | 1 / 7739 | ||||
|
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(OMIM) | Normal first metacarpal | 1 / 7739 | ||||
|
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(OMIM) | Growth cartilage histology quite different from diastrophic dysplasia | 1 / 7739 | ||||
|
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(OMIM) | Marked lumbar lordosis | 1 / 7739 | ||||
|
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(OMIM) | Pseudodiastrophic dysplasia | 1 / 7739 | ||||
|
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
|
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(OMIM) | Severe clubfoot | 1 / 7739 | ||||
|
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(OMIM) | Interphalangeal and metacarpophalangeal joint dislocations | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|