Hemifacial hyperplasia
Synonyms: Hemifacial hypertrophy
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hemifacial hyperplasia | Hemifacial hypertrophy |
| fr | Hyperplasie hémifaciale | Hypertrophie hémifaciale |
| de | Hyperplasie, hemifaziale | Hypertrophie, hemifaziale |
| es | Hiperplasia hemifacial | Hipertrofia hemifacial |
| it | Iperplasia emifacciale | |
| nl | Hemifaciale hyperplasie | Hemifaciale hypertrofie |
| pt | Hipertrofia hemifacial | |
| pl | Połowiczy przerost twarzy | = en |
| cs | Hemifaciální hypertrofie | = en |
| uk | Геміфаціальна гіперплазія | Гіпертрофія лицьового нерва |
| zh | 半侧颜面增生 | 半侧颜面肥大 |
| tr | Hemifasiyal hiperplazi | Hemifasiyal hipertrofi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 133900 | E | validated | |
| ICD-10 | Q67.4 | NTBT | inclusion | validated |
| ICD-11 | LA52 | NTBT | index | validated |
| MONDO | 0007590 | E | validated | |
| UMLS | C1399354 | 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 |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.16 / 100 000 | United States | Value and class | Validated | ISBN-10:0867153903[OTHER]_28163490[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 1.16 / 100 000 | United States | Value and class | Validated | ISBN-10:0867153903[OTHER]_28163490[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
15 annotations · validated 2024-10-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0005323 | Hemifacial hypertrophy | |
| Very frequent (99-80%) | ||
| HP:0000324 | Facial asymmetry | |
| Frequent (79-30%) | ||
| HP:0000689 | Dental malocclusion | |
| HP:0004411 | Deviated nasal septum | |
| HP:0100875 | Hemimacroglossia | |
| HP:0001572 | Macrodontia | |
| HP:0012471 | Thick vermilion border | |
| Occasional (29-5%) | ||
| HP:0006536 | Airway obstruction | |
| HP:0002315 | Headache | |
| HP:0005216 | Impaired mastication | |
| HP:0040264 | Jaw pain | |
| HP:0010807 | Open bite | |
| HP:0002098 | Respiratory distress | |
| HP:0009900 | Unilateral deafness | |
| HP:0025797 | Unilateral sensorineural hearing impairment | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 16700954[PMID]_28839423[PMID]_32622511[PMID]_27843653[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/141145
- This record as JSON: /data/d/141145.json