ORPHA:96103
Distal duplication 11q syndrome
Also known as: Telomeric duplication 11q · Trisomy 11qter · Distal trisomy 11q
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
10
12.1th percentile
Trials
0
Interventional, condition-specific
Researchers
58
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and . Short stature and , as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019885
- MeSH:C538294
- UMLS:C2931797
Additional Mondo synonyms (5)
Chromosome 11, Partial Trisomy 11q · distal duplication 11q · distal trisomy type 11q · telomeric duplication 11q · trisomy 11qter
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
10 matched papers (2 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?
10
10 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.
10 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).
2 in the last 10 years · high confidence · 12.1th percentile (publications denominator)
Phrase hits: 10 · MeSH hits: 0
Who's working on it?
58
Distinct author names in 10 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.
- 01Aerts T1 paper · 2020
Developmental Neurobiology Group, Animal Physiology and Neurobiology Division, Department of Biology, Katholieke Universiteit Leuven, Leuven, Belgium.
Papers in Europe PMC - 02Allard D1 paper · 1982Papers in Europe PMC
- 03Aurias A1 paper · 1982Papers in Europe PMC
- 04Besio B1 paper · 1986Papers in Europe PMC
- 05Bihler M1 paper · 2008Papers in Europe PMC
- 06Chen R1 paper · 2014
Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No59, Xiangzhu Road, Nanning, China.
Papers in Europe PMC - 07Chen S1 paper · 2014
Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No59, Xiangzhu Road, Nanning, China.
Papers in Europe PMC - 08Chiossi F1 paper · 1986Papers in Europe PMC
- 09Chiossi M1 paper · 1986Papers in Europe PMC
- 10Choi J1 paper · 2015
Department of Pediatrics, Eulji General Hospital, College of Medicine, Eulji University, Seoul, Korea.
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.
"Distal duplication 11q syndrome" OR "Telomeric duplication 11q" OR "Trisomy 11qter" OR "Distal trisomy 11q" OR "Chromosome 11, Partial Trisomy 11q" OR "distal duplication 11q" OR "distal trisomy type 11q"
MeSH descriptor terms unioned into the query: Chromosome 11, partial trisomy 11q
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Distal duplication 11q syndrome" OR "Telomeric duplication 11q" OR "Trisomy 11qter" OR "Distal trisomy 11q" OR "Chromosome 11, Partial Trisomy 11q" OR "distal duplication 11q" OR "distal trisomy type 11q" OR "partial duplication of chromosome 11"
Recall-expansion terms: partial duplication of chromosome 11
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, 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 2026-07-27T04:53:00.392Z