Hemimelia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Longitudinal meromelia |
| Number of Symptoms | 7 |
| OrphanetNr: | 2130 |
| OMIM Id: |
|
| ICD-10: |
Q71.8 Q72.8 Q73.8 |
| UMLs: |
C0018987 |
| MeSH: |
|
| MedDRA: |
10019464 |
| Snomed: |
33076008 |
Prevalence, inheritance and age of onset:
| Prevalence: | 4.15 of 100 000 [Orphanet] |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Non syndromic limb reduction defect
-Rare bone disease -Rare developmental defect during embryogenesis |
Symptom Information:
|
|
(HPO:0000204) | Cleft upper lip | Very frequent [Orphanet] | 193 / 7739 | |||
|
|
(HPO:0000174) | Abnormality of the palate | Very frequent [Orphanet] | 298 / 7739 | |||
|
|
(HPO:0003027) | Mesomelia | Very frequent [Orphanet] | 58 / 7739 | |||
|
|
(HPO:0002815) | Abnormality of the knee | Very frequent [Orphanet] | 19 / 7739 | |||
|
|
(HPO:0003028) | Abnormality of the ankles | Very frequent [Orphanet] | 14 / 7739 | |||
|
|
(HPO:0002992) | Abnormality of the tibia | Very frequent [Orphanet] | 51 / 7739 | |||
|
|
(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|