Tibial hemimelia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
TIBIA, ABSENCE OF THM Congenital longitudinal deficiency of the tibia Congenital aplasia and dysplasia of the tibia with intact fibula Absence of tibia |
| Number of Symptoms | 2 |
| OrphanetNr: | 93322 |
| OMIM Id: |
275220
|
| ICD-10: |
Q72.5 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 0.1 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant Autosomal recessive Not applicable [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Hemimelia
-Rare bone disease -Rare developmental defect during embryogenesis |
Symptom Information:
|
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(HPO:0009556) | Absent tibia | 9 / 7739 | ||||
|
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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