ORPHA:2220
Hypertrichosis cubiti
Also known as: Hairy elbows syndrome · MacDermot-Patton-Williams syndrome
Publications
93
57.1th percentile
Trials
0
Interventional, condition-specific
Researchers
732
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as , facial anomalies and , may or may not be associated.
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.
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
93 matched papers (60 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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?
93
93 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=5449) is 41.
93 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).
60 in the last 10 years · high confidence · 57.1th percentile (publications denominator)
Phrase hits: 93 · MeSH hits: 0
Who's working on it?
732
Distinct author names in 93 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.
- 01Bjornsson HT3 papers · 2025
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. hbjorns1@jhmi.edu.
Papers in Europe PMC - 02Chen X3 papers · 2023
Physical Medicine and Rehabilitation Center, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Zhejiang, China.
Papers in Europe PMC - 03Chen Y3 papers · 2026
Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China.
Papers in Europe PMC - 04Fontana A3 papers · 2021
Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialities "G. D'Alessandro," University of Palermo, Palermo, Italy.
Papers in Europe PMC - 05Gervasini C3 papers · 2022
Genetica Medica, Dipartimento di Scienze della Salute, Università degli Studi di Milano, Milan, Italy. cristina.gervasini@unimi.it.
Papers in Europe PMC - 06Mangano S3 papers · 2021
Department of Sciences for Health Promotion and Mother and Child Care G, D'Alessandro, Child Neuropsychiatry Unit, Università di Palermo, Palermo, Italy. manganos@katamail.com
Papers in Europe PMC - 07Merla G3 papers · 2024
Unità di Genetica Medica, IRCSS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
Papers in Europe PMC - 08Milani D3 papers · 2021
Unità di Pediatria ad alta Intensità di Cura, Fondazione IRCCS Ca' Granda, Milan, Italy.
Papers in Europe PMC - 09Nardello R3 papers · 2021
Dipartimento Materno Infantile, Unità Operativa di Neuropsichiatria Infantile, Università degli Studi di Palermo.
Papers in Europe PMC - 10Piccione M3 papers · 2022
Dipartimento Materno Infantile, Azienda Ospedali Riuniti Villa Sofia Cervello, Università di Palermo, Palermo, Italy.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
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 — 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 on the overview but are not added to the query string.
"Hypertrichosis cubiti" OR "Hairy elbows syndrome" OR "MacDermot-Patton-Williams syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hypertrichosis cubiti" OR "Hairy elbows syndrome" OR "MacDermot-Patton-Williams syndrome"
Study-type breakdown: 0 interventional · 0 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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T19:29:53.898Z