Mesomelic dwarfism, Reinhardt-Pfeiffer type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MESOMELIC DWARFISM OF HYPOPLASTIC ULNA AND FIBULA TYPE Reinhardt-Pfeiffer syndrome reinhardt-pfeiffer mesomelic dysplasia |
| Number of Symptoms | 20 |
| OrphanetNr: | 2634 |
| OMIM Id: |
191400
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| ICD-10: |
Q78.8 |
| UMLs: |
C1860616 |
| MeSH: |
C537349 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Mesomelic and rhizo-mesomelic dysplasia
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0000486) | Strabismus | Occasional [Orphanet] | 576 / 7739 | |||
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(HPO:0000545) | Myopia | Occasional [Orphanet] | 286 / 7739 | |||
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(HPO:0002992) | Abnormality of the tibia | Very frequent [Orphanet] | 51 / 7739 | |||
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(HPO:0009465) | Ulnar deviation of finger | Very frequent [Orphanet] | 48 / 7739 | |||
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(HPO:0002997) | Abnormality of the ulna | Very frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0003038) | Fibular hypoplasia | 30 / 7739 | ||||
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(HPO:0003022) | Hypoplasia of the ulna | 40 / 7739 | ||||
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(HPO:0002991) | Abnormality of the fibula | Very frequent [Orphanet] | 49 / 7739 | |||
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(HPO:0003027) | Mesomelia | Very frequent [Orphanet] | 58 / 7739 | |||
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(HPO:0003042) | Elbow dislocation | Very frequent [Orphanet] | 89 / 7739 | |||
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(HPO:0002818) | Abnormality of the radius | Very frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0005048) | Synostosis of carpal bones | Frequent [Orphanet] | 39 / 7739 | |||
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(HPO:0008921) | Neonatal short-limb short stature | 12 / 7739 | ||||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0200040) | Epidermoid cyst | Very frequent [Orphanet] | 35 / 7739 | |||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Abnormal tibia | 1 / 7739 | ||||
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(OMIM) | Abnormal radius | 1 / 7739 | ||||
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(OMIM) | Normal facies | 9 / 7739 | ||||
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(OMIM) | Normocephaly | 10 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Pfeiffer (1966) and Reinhardt and Pfeiffer (1967) studied a kindred with 14 persons affected by hypoplasia of ulna and fibula in the pattern of a regular autosomal dominant. In addition to the shortening and characteristic dysplasia of the ... |