ORPHA:2473
McKusick-Kaufman syndrome
Also known as: Hydrometrocolpos-postaxial polydactyly syndrome · Kaufman-Mckusick syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
354
74.6th percentile
Trials
0
Interventional, condition-specific
Researchers
1,163
Distinct authors in sample
Gene link
MKKS
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic syndrome with multiple anomalies characterized by urogenital malformations, mainly hydrometrocolpos (HMC) in females, postaxial polydactyly (PAP) and heart disease (CHD). The disorder is allelic with Bardet-Biedl syndrome 6 (BBS6).
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:0009367
- MeSH:C538159
- OMIM:236700
- UMLS:C0948368
Additional Mondo synonyms (1)
hydrometrocolpos-postaxial polydactyly syndrome
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — MKKS
- LiteraturePresent
354 matched papers (157 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?
Yes — we know a specific gene responsible (MKKS).
GenCC classification: Definitive.
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?
354
354 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.
354 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).
157 in the last 10 years · high confidence · 74.6th percentile (publications denominator)
Phrase hits: 354 · MeSH hits: 0
Who's working on it?
1,163
Distinct author names in 200 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 LG11 papers · 2021
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Papers in Europe PMC - 02Slavotinek AM5 papers · 2021
National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland 20892, USA. aslavoti@nhgri.nih.gov
Papers in Europe PMC - 03Sheffield VC4 papers · 2022
Department of Pediatrics, Division of Medical Genetics, Howard Hughes Medical Institute, University of Iowa, 4181 MERF, Iowa City, IA 52242, USA. val-sheffield@uiowa.edu
Papers in Europe PMC - 04Conway de Macario E3 papers · 2020
Department of Microbiology and Immunology, School of Medicine, University of Maryland at Baltimore-Institute of Marine and Environmental Technology (IMET), Baltimore, MD 21202, USA.
Papers in Europe PMC - 05Davis EE3 papers · 2025
Northwestern University, Feinberg School of Medicine, Chicago, IL, USA.
Papers in Europe PMC - 06Geipel A3 papers · 2023
Department of Obstetrics and Prenatal Medicine, University Hospital Bonn, Venusberg-Campus 1, 53127, Bonn, Germany.
Papers in Europe PMC - 07Gembruch U3 papers · 2023
Department of Obstetrics and Prenatal Medicine, University Hospital Bonn, Venusberg-Campus 1, 53127, Bonn, Germany.
Papers in Europe PMC - 08Katsanis N3 papers · 2018
Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA. Electronic address: nicholas.katsanis@duke.edu.
Papers in Europe PMC - 09Li S3 papers · 2024
Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Beijing, China.
Papers in Europe PMC - 10
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.
"McKusick-Kaufman syndrome" OR "Hydrometrocolpos-postaxial polydactyly syndrome" OR "Kaufman-Mckusick syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"McKusick-Kaufman syndrome" OR "Hydrometrocolpos-postaxial polydactyly syndrome" OR "Kaufman-Mckusick syndrome" OR "MKKS"
Recall-expansion terms: MKKS
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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 2026-07-26T20:15:36.241Z