ORPHA:168984
CLAPO syndrome
Clinical definition (Orphanet)
A rare, complex, vascular syndrome characterized by capillary of the lower lip, lymphatic of the face and neck, asymmetry of face and limbs, and partial or generalized overgrowth involving one or more body segments.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Is anyone studying this?
58
58 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=183) is 38.
58 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
56 in the last 10 years · medium confidence · 57.4th percentile (publications denominator)
Is a treatment being tested?
0
trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
medium confidence · 29.6th percentile (trials denominator)
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.
Who's working on it?
362
Distinct author names in 58 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Biesecker LG4 papers · 2022
Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.
Papers in Europe PMC - 02
- 03Agra N3 papers · 2020
Vascular Malformations Section, Institute of Medical and Molecular Genetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
Papers in Europe PMC - 04Boixeda P3 papers · 2022
Vascular Anomalies Unit, Department of Dermatology, University Hospital Ramon y Cajal, Madrid, Spain.
Papers in Europe PMC - 05López-Gutiérrez JC3 papers · 2022
Department of Pediatric Surgery, Vascular Anomalies Center, University Hospital La Paz, Madrid, Spain.
Papers in Europe PMC - 06Anand R2 papers · 2022
Department of Radio-Diagnosis, Lady Hardinge Medical College and Associated Hospitals, New Delhi, India.
Papers in Europe PMC - 07Ayuso C2 papers · 2018
CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.
Papers in Europe PMC - 08Baselga E2 papers · 2022
Department of Dermatology, Hospital Sant Joan de Déu, Passeig de Sant Joan de Déu, Barcelona, Spain.
Papers in Europe PMC - 09Buonuomo PS2 papers · 2023
Rare Disease and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, 00168 Rome, Italy.
Papers in Europe PMC - 10Bustamante A2 papers · 2018
CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it above — people publishing on this disease are often the practical next contact when no trial is listed.
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 below but are not added to the query string.
"CLAPO syndrome" OR "CLAPO syndrome, somatic"
MeSH descriptor terms unioned into the query: CLAPO Syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"CLAPO syndrome" OR "CLAPO syndrome, somatic"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C567763 OMIM:613089 UMLS:C2751313
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus