Hemifacial myohyperplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
Hemifacial myohyperplasia is a rare developmental defect during embryogenesis characterized by unilateral hyperplasia of the facial musculature with no evidence of hyperplasia of bone or other organ systems. It clinically present with dimpling of the skin, ptosis, enophthalmos, narrow palpebral fissure, auricular displacement, smaller nasal vestibule, and nasal and chin deviation on the affected side. Facial paresis of the affected side and mild ipsilateral hypoplasia of the facial skeleton might be present.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hemifacial myohyperplasia | |
| fr | Myohyperplasie hémifaciale | |
| de | Myohyperplasie, hemifaziale | |
| es | Miohiperplasia hemifacial | |
| it | Mioiperplasia emifacciale | |
| nl | Hemifaciale myohyperplasie | |
| pt | Mio-hiperplasia hemifacial | |
| pl | Połowiczy przerost mięśni twarzy | |
| cs | Hemifaciální myohyperplázie | |
| uk | Геміфаціальна міогіперплазія | |
| zh | 半侧颜面肌肉增生 | |
| tr | Hemifasiyal miyohiperplazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606773 | E | validated | |
| ICD-10 | Q67.4 | NTBT | attributed | validated |
| ICD-11 | LA52 | NTBT | index | validated |
| MONDO | 0011723 | E | validated | |
| MeSH | C535862 | E | validated | |
| UMLS | C1847521 | E | validated | |
| GARD | 10084 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:156207Macroglossia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare surgical maxillo-facial diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 20583183[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20583183[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/141148
- This record as JSON: /data/d/141148.json