Hemifacial hypertrophy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
HEMIFACIAL HYPERTROPHY FACIAL HEMIHYPERTROPHY FACIAL ASYMMETRY |
| Number of Symptoms | 5 |
| OrphanetNr: | 141145 |
| OMIM Id: |
133900
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| ICD-10: |
Q67.4 |
| 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: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Macroglossia
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease |
Symptom Information:
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(HPO:0000324) | Facial asymmetry | 57 / 7739 | ||||
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(HPO:0000689) | Dental malocclusion | 114 / 7739 | ||||
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(HPO:0000327) | Hypoplasia of the maxilla | 129 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Mandibular asymmetry | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
The criteria for the hemifacial type of congenital hypertrophy are (1) unilateral enlargement of the viscerocranium bounded superiorly by the frontal bone (not including the eye), inferiorly by the inferior border of the mandible, medially by the midline ... |
| Clinical Description OMIM |
Rowe (1962) reported 4 cases of hemifacial hypertrophy and reviewed 30 previously reported cases. The left and right sides were almost equally affected. Histologic examination in one case demonstrated that the enlargement resulted from an increased number of ... |