ORPHA:1214
Progressive hemifacial atrophy
Also known as: Hemifacial atrophy · PHA · Parry-Romberg syndrome · Progressive facial hemiatrophy · Romberg syndrome
Publications
1,409
Trials
1
Interventional, condition-specific
Researchers
899
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly 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.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007710
- MeSH:D005150
- OMIM:141300
- UMLS:C0015458
- NCIT:C116916
Additional Mondo synonyms (4)
hemifacial atrophy · parry-Romberg syndrome · progressive facial hemiatrophy · progressive hemifacial atrophy
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
1,409 matched papers (605 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
1 matched on ClinicalTrials.gov
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
1,409
1,409 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
1,409 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
605 in the last 10 years · low confidence
Phrase hits: 1,409 · MeSH hits: 0
Who's working on it?
899
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Zhang Y7 papers · 2026
Department of Orthodontics, School and Hospital of Stomatology, China Medical University, Nanjing North Street 117, Shenyang, 110002, China. fssyyqcy@163.com.
Papers in Europe PMC - 02Dedeoglu F6 papers · 2025
Division of Immunology, Rheumatology Program, Boston Children's Hospital, 300 Longwood Avenue, 02115, Boston, MA, USA. fatma.dedeoglu@childrens.harvard.edu.
Papers in Europe PMC - 03Vleugels RA6 papers · 2025
Division of Immunology, Dermatology Program, Boston Children's Hospital, Boston, MA, USA.
Papers in Europe PMC - 04Ganske IM5 papers · 2025
Department of Plastic and Oral Surgery Boston Children's Hospital and Harvard Medical School Boston Massachusetts USA.
Papers in Europe PMC - 05Jin X5 papers · 2026
Department of plastic and reconstructive surgery, Plastic Surgery Hospital, Chinese Acedemy of Medical Sciences And Peking Union Medical College, Beijing, China.
Papers in Europe PMC - 06Wang X5 papers · 2025
Department of Plastic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Papers in Europe PMC - 07Li Y4 papers · 2026
Ophthalmology Department, Qingdao University Medical College Affiliated Yantai Yuhuangding Hospital, Yantai.
Papers in Europe PMC - 08Singh S4 papers · 2025
Department of Dermatology, Venereology and Leprology, All India Institute of Medical Sciences, Jodhpur 342008, Rajasthan, India.
Papers in Europe PMC - 09Chaiyasate K3 papers · 2024
Division of Plastic and Reconstructive Surgery, Beaumont Health System, Royal Oak, Mich.
Papers in Europe PMC - 10Cohen SM3 papers · 2025
Department of Surgery Beth Israel Deaconess Medical Center Boston Massachusetts USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
low confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Progressive hemifacial atrophy" OR "Hemifacial atrophy" OR "Parry-Romberg syndrome" OR "Progressive facial hemiatrophy" OR "Romberg syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Progressive hemifacial atrophy" OR "Hemifacial atrophy" OR "Parry-Romberg syndrome" OR "Progressive facial hemiatrophy" OR "Romberg syndrome"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: PHA
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (1409) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-26T16:43:22.659Z