Hemifacial hypertrophy
disease diseaseOn this page
Summary
Hemifacial hypertrophy (MONDO:0007590) is a disease. A subtype of overgrowth syndrome — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: 1-9 / 100 000 (United States) [Orphanet-validated]
- Phenotypes (HPO): 15
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.16 | United States | Validated |
| Prevalence at birth | 1-9 / 100 000 | 1.16 | United States | Validated |
Signs & symptoms
Clinical features (HPO)
15 HPO clinical features (Orphanet curated; top 15 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0005323 | Hemifacial hypertrophy | Obligate (100%) |
| HP:0000324 | Facial asymmetry | Very frequent (80-99%) |
| HP:0000689 | Dental malocclusion | Frequent (30-79%) |
| HP:0001572 | Macrodontia | Frequent (30-79%) |
| HP:0004411 | Deviated nasal septum | Frequent (30-79%) |
| HP:0012471 | Thick vermilion border | Frequent (30-79%) |
| HP:0100875 | Hemimacroglossia | Frequent (30-79%) |
| HP:0002098 | Respiratory distress | Occasional (5-29%) |
| HP:0002315 | Headache | Occasional (5-29%) |
| HP:0005216 | Impaired mastication | Occasional (5-29%) |
| HP:0006536 | Airway obstruction | Occasional (5-29%) |
| HP:0009900 | Unilateral deafness | Occasional (5-29%) |
| HP:0010807 | Open bite | Occasional (5-29%) |
| HP:0025797 | Unilateral sensorineural hearing impairment | Occasional (5-29%) |
| HP:0040264 | Jaw pain | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | hemifacial hypertrophy |
| Mondo ID | MONDO:0007590 |
| OMIM | 133900 |
| Orphanet | 141145 |
| ICD-11 | 2090544963 |
| UMLS | C1399354 |
| MedGen | 452987 |
| GARD | 0016971 |
| Is cancer (heuristic) | no |
Also known as: hemifacial hypertrophy
Disease family
This is a subtype of overgrowth syndrome. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by developmental or physiological process › disorder of development or morphogenesis › overgrowth syndrome › hemifacial hypertrophy
Related subtypes (30): Beckwith-Wiedemann syndrome, angioosteohypertrophic syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, isolated hemihyperplasia, hypoinsulinemic hypoglycemia and body hemihypertrophy, Perlman syndrome, Weaver syndrome, Simpson-Golabi-Behmel syndrome, tetrasomy 12p, Marshall-Smith syndrome, hemifacial myohyperplasia, CLAPO syndrome, Maffucci syndrome, Malan overgrowth syndrome, segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome, trisomy 5p, hemihyperplasia-multiple lipomatosis syndrome, 11p15.4 microduplication syndrome, 15q overgrowth syndrome, global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome, megalencephaly-severe kyphoscoliosis-overgrowth syndrome, congenital isolated hyperinsulinism, 4p16.3 microduplication syndrome, overgrowth syndrome with 2q37 translocation, MTOR-related overgrowth spectrum, AKT3-related overgrowth spectrum, PRC-2 complex-related overgrowth spectrum, PIK3CA-related overgrowth spectrum, PIK3R2-related overgrowth spectrum
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.