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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.
Features include: Delayed eruption of teeth, Patchy alopecia, Horner syndrome, and Migraine and 12 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 4 | Migraine, Seizure, Ataxia |
Muscles |
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for facial hemiatrophy.
62 publications have been identified in PubMed for facial hemiatrophy. Research spans Case Report / Case Series (56%), Review / Meta-Analysis (15%), and Other (10%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 34 | 56% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:59 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
2
Tongue atrophy, Hemifacial atrophy |
Skin | 1 | Patchy alopecia |
Bones and joints | 1 | Excessive outward curvature of the upper spine (kyphosis) |
Head and neck | 1 | Short mandibular rami |
9 |
15% |
Other research | 6 | 10% |
Clinical study results | 5 | 8% |
New treatment approaches | 3 | 5% |
Laboratory research | 2 | 3% |
Disease patterns and progression | 2 | 3% |
Matucci-Cerinic C (2026). [PMID: 41864763](https://pubmed.ncbi.nlm.nih.gov/41864763/). *Best Pract Res Clin Rheumatol*. [Review / Meta-Analysis]
Meng Z (2026). [PMID: 41586526](https://pubmed.ncbi.nlm.nih.gov/41586526/). *J Craniofac Surg*. [Gene Therapy / Novel Therapeutics]
Shah SS (2026). [PMID: 34662020](https://pubmed.ncbi.nlm.nih.gov/34662020/). *Unknown Journal*. [Other]
Li X (2026). [PMID: 39584408](https://pubmed.ncbi.nlm.nih.gov/39584408/). *Cleft Palate Craniofac J*. [Basic Science / Preclinical]
Chiang YK (2026). [PMID: 42160064](https://pubmed.ncbi.nlm.nih.gov/42160064/). *JAMA Dermatol*. [Case Report / Case Series]
Turlea C (2026). [PMID: 42072844](https://pubmed.ncbi.nlm.nih.gov/42072844/). *Diagnostics (Basel)*. [Case Report / Case Series]
Gazda A (2026). [PMID: 41528502](https://pubmed.ncbi.nlm.nih.gov/41528502/). *Rheumatol Int*. [Review / Meta-Analysis]
Regazzo G (2026). [PMID: 41313221](https://pubmed.ncbi.nlm.nih.gov/41313221/). *Eur J Transl Myol*. [Case Report / Case Series]
Ueno K (2026). [PMID: 42191522](https://pubmed.ncbi.nlm.nih.gov/42191522/). *Int J Oral Maxillofac Surg*. [Clinical Trial Publication]
Sarda B (2026). [PMID: 41847085](https://pubmed.ncbi.nlm.nih.gov/41847085/). *Case Reports Plast Surg Hand Surg*. [Case Report / Case Series]