facial hemiatrophy
MONDO:0007710Mondo
Findings
No curated finding names facial hemiatrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved.
Definition from the Mondo Disease Ontology (MONDO:0007710), read 2026-09-29. CC BY 4.0.
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal mandible morphologyHPOHP:0000277
- Very frequent (80% to 99% of cases)
- Facial asymmetryHPOHP:0000324
- Very frequent (80% to 99% of cases)
- Irregular hyperpigmentationHPOHP:0007400
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Abnormality of the musculatureHPOHP:0003011
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the skinHPOHP:0008065
- Frequent (30% to 79% of cases)
- Asymmetric growthHPOHP:0100555
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Deeply set eyeHPOHP:0000490
- Occasional (5% to 29% of cases)
- Heterochromia iridisHPOHP:0001100
- Occasional (5% to 29% of cases)
- PtosisHPOHP:0000508
- Occasional (5% to 29% of cases)
Where it sits
Other names
5 names
Resolves to: facial hemiatrophy
- Also called
- hemifacial atrophyparry-Romberg syndromeprogressive facial hemiatrophyprogressive hemifacial atrophyRomberg syndrome