ORPHA:261112
Monosomy 9p syndrome
Also known as: 9p deletion syndrome · 9p- syndrome · Alfi syndrome
Publications
742
84.5th percentile
Trials
0
Interventional, condition-specific
Researchers
1,390
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor , facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular and scoliosis.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008013
- MeSH:C538024
- OMIM:158170
- UMLS:C0795830
Additional Mondo synonyms (13)
9p deletion · 9p monosomy · chromosome 9p deletion · deletion 9p · monosomy 9p · monosomy 9p syndrome · monosomy type 9p · partial deletion of chromosome 9p · partial deletion of the short arm of chromosome 9 · partial deletion of the short arm of chromosome type 9 · partial monosomy 9p · partial monosomy of chromosome 9p · partial monosomy of the short arm of chromosome 9
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
742 matched papers (295 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?
742
742 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.
742 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).
295 in the last 10 years · high confidence · 84.5th percentile (publications denominator)
Phrase hits: 742 · MeSH hits: 0
Who's working on it?
1,390
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.
- 01Chen CP8 papers · 2024
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China. cpc_mmh@yahoo.com
Papers in Europe PMC - 02Turner TN7 papers · 2025
Department of Genetics, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
Papers in Europe PMC - 03Wang W6 papers · 2024
Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Papers in Europe PMC - 04Cole FS5 papers · 2025
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, and St. Louis Children's Hospital, St. Louis, Missouri 63110, USA.
Papers in Europe PMC - 05Flanagan SE5 papers · 2025
Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, UK. S.Flanagan@exeter.ac.uk.
Papers in Europe PMC - 06Laver TW5 papers · 2025
Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, UK.
Papers in Europe PMC - 07Li Y5 papers · 2026
Department of Laboratory Medicine, Wuzhou Gongren Hospital, 1Gaodi Road, Wuzhou, 543001, Guangxi, China.
Papers in Europe PMC - 08Wakeling MN5 papers · 2025
Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, UK.
Papers in Europe PMC - 09Wang J5 papers · 2026
Department of Neurology, Affiliated Children's Hospital of Capital Institute of Pediatrics, Beijing, 100020, China. jam1080800004@163.com.
Papers in Europe PMC - 10Wang Y5 papers · 2025
Department of Neurology, Affiliated Children's Hospital of Capital Institute of Pediatrics, Beijing, 100020, China.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
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.
Recruiting or not-yet-recruiting
- NCT04586400·RECRUITING·Chromosome 9 P Minus Syndrome
Conditions: Chromosome 9P Deletion Syndrome · 9p Minus Syndrome · Alfi Syndrome · 9P Monosomy·Matched via name + MeSH
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.
"Monosomy 9p syndrome" OR "9p deletion syndrome" OR "9p- syndrome" OR "Alfi syndrome" OR "9p deletion" OR "9p monosomy" OR "chromosome 9p deletion" OR "deletion 9p" OR "monosomy 9p" OR "monosomy type 9p" OR "partial deletion of chromosome 9p" OR "partial deletion of the chromosome 9p" OR "partial deletion of the short arm of chromosome 9" OR "partial deletion of short arm of chromosome 9" OR "partial deletion of the short arm of chromosome type 9" OR "partial deletion of short arm of chromosome type 9" OR "partial monosomy 9p" OR "partial monosomy of chromosome 9p" OR "partial monosomy of the chromosome 9p" OR "partial monosomy of the short arm of chromosome 9" OR "partial monosomy of short arm of chromosome 9"
MeSH descriptor terms unioned into the query: Chromosome 9p Deletion Syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Monosomy 9p syndrome" OR "9p deletion syndrome" OR "9p- syndrome" OR "Alfi syndrome" OR "9p deletion" OR "9p monosomy" OR "chromosome 9p deletion" OR "deletion 9p" OR "monosomy 9p" OR "monosomy type 9p" OR "partial deletion of chromosome 9p" OR "partial deletion of the chromosome 9p" OR "partial deletion of the short arm of chromosome 9" OR "partial deletion of short arm of chromosome 9" OR "partial deletion of the short arm of chromosome type 9" OR "partial deletion of short arm of chromosome type 9" OR "partial monosomy 9p" OR "partial monosomy of chromosome 9p" OR "partial monosomy of the chromosome 9p" OR "partial monosomy of the short arm of chromosome 9" OR "partial monosomy of short arm of chromosome 9" OR "Chromosome 9p Deletion Syndrome"
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
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 2026-07-27T11:12:27.540Z