ORPHA:1642
Distal deletion 9p syndrome
Also known as: Distal monosomy 9p · Monosomy 9pter · Telomeric deletion 9p
Publications
9
7th percentile
Trials
0
Interventional, condition-specific
Researchers
52
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable typically characterized by , craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0015605
- MeSH:C538025
- UMLS:C0265425
Additional Mondo synonyms (4)
distal deletion 9p · distal monosomy type 9p · monosomy 9pter · telomeric deletion 9p
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
9 matched papers (1 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?
9
9 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=5449) is 41.
9 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).
1 in the last 10 years · high confidence · 7th percentile (publications denominator)
Phrase hits: 9 · MeSH hits: 0
Who's working on it?
52
Distinct author names in 9 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.
- 01Liehr T2 papers · 2013Papers in Europe PMC
- 02Wafa A2 papers · 2013Papers in Europe PMC
- 03Achkar WA1 paper · 2013
Department of Molecular Biology and Biotechnology, Human Genetics Division, Atomic Energy Commission, P,O, Box 6091, Damascus, Syria. ascientific@aec.org.sy.
Papers in Europe PMC - 04Akbas E1 paper · 2011
Mersin University, Faculty of Medicine, Department of Medical Biology and Genetics, Mersin, Turkey. akbasetem@gmail.com
Papers in Europe PMC - 05Al Achkar W1 paper · 2010
Molecular Biology and Biotechnology Department, Human Genetics Division, Atomic Energy Commission, Damascus, Syria. scientific@aec.org.sy.
Papers in Europe PMC - 06Alhourani E1 paper · 2013Papers in Europe PMC
- 07Aljapawe A1 paper · 2013Papers in Europe PMC
- 08Altintas ZM1 paper · 2011Papers in Europe PMC
- 09Bartels I1 paper · 2013
Institute of Human Genetics, University Medical Center Goettingen, Germany. ibartel@gwdg.de
Papers in Europe PMC - 10Bartsch O1 paper · 2004Papers 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 phrase
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.
"Distal deletion 9p syndrome" OR "Distal monosomy 9p" OR "Monosomy 9pter" OR "Telomeric deletion 9p" OR "distal deletion 9p" OR "distal monosomy type 9p"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Distal deletion 9p syndrome" OR "Distal monosomy 9p" OR "Monosomy 9pter" OR "Telomeric deletion 9p" OR "distal deletion 9p" OR "distal monosomy type 9p" OR "chromosome 9p deletion syndrome" OR "partial deletion of chromosome 9"
Recall-expansion terms: chromosome 9p deletion syndrome, partial deletion of chromosome 9
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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 2026-07-26T17:50:45.057Z