ORPHA:99329
48,XYYY syndrome
Clinical definition (Orphanet)
A rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate (especially speech), normal to mild , large, irregular teeth with poor enamel, tall stature and acne. Radioulnar synostosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males.
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?
5
5 papers have ever been indexed 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.
5 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).
3 in the last 10 years · high confidence · 18th 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.
high 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?
9
Distinct author names in 5 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.
- 01Abedi M1 paper · 2018
Department of Animal Science Faculty of Natural Sciences Tabriz University Tabriz Iran.
Papers in Europe PMC - 02Craft I1 paper · 2002Papers in Europe PMC
- 03Lau E1 paper · 2023
Division of Thoracic Surgery, McMaster University, Hamilton, ON, Canada.
Papers in Europe PMC - 04Nasralla A1 paper · 2023
Department of General Surgery, University of Alberta, Edmonton, AB, Canada. a-nasralla@hotmail.com.
Papers in Europe PMC - 05Sakhinia E1 paper · 2018
Connective Tissue Research Center Department of Medical Genetics Faculty of Medicine and Tabriz Genetic Analysis Centre (TGAC) Tabriz University of Medical Sciences Tabriz Iran.
Papers in Europe PMC - 06Salmaninejad A1 paper · 2018
Drug Applied Research Center Student Research Committee Tabriz University of Medical Sciences Tabriz Iran.
Papers in Europe PMC - 07Shargall Y1 paper · 2023
Division of Thoracic Surgery, McMaster University, Hamilton, ON, Canada.
Papers in Europe PMC - 08Sur R1 paper · 2023
Department of Radiation Oncology, Juravinski Cancer Centre, McMaster University, Hamilton, ON, Canada.
Papers in Europe PMC - 09Venkataraman G1 paper · 2002
London Fertility Centre, Cozens House, 112a Harley Street, UK.
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.
"48,XYYY syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"48,XYYY syndrome"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): UMLS:C4518082
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