ORPHA:96094
Distal duplication 2q syndrome
Also known as: Distal trisomy 2q · Telomeric duplication 2q · Trisomy 2qter
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Clinical definition (Orphanet)
Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild , facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed.
Is anyone studying this?
8
8 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.
8 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).
2 in the last 10 years · high confidence · 15.3th 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?
67
Distinct author names in 8 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.
- 01Antonacci F1 paper · 2023
Dipartimento di Bioscienze, Biotecnologie e Ambiente, Università degli Studi di Bari "Aldo Moro", 70125 Bari, Italy.
Papers in Europe PMC - 02Aslan M1 paper · 1999Papers in Europe PMC
- 03Boespflug-Tanguy O1 paper · 2011Papers in Europe PMC
- 04Bucci R1 paper · 2023
U.O.C. Laboratorio di Genetica Medica, PO Di Venere-ASL Bari, 70012 Bari, Italy.
Papers in Europe PMC - 05Burada F1 paper · 2025
Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania.
Papers in Europe PMC - 06Busse S1 paper · 2009Papers in Europe PMC
- 07Calotă-Dobrescu A1 paper · 2025
Regional Centre of Medical Genetics Dolj, Emergency Clinical County Hospital Craiova, 200642 Craiova, Romania.
Papers in Europe PMC - 08Capri Y1 paper · 2011Papers in Europe PMC
- 09Catacchio CR1 paper · 2023
Dipartimento di Bioscienze, Biotecnologie e Ambiente, Università degli Studi di Bari "Aldo Moro", 70125 Bari, Italy.
Papers in Europe PMC - 10Chang J1 paper · 2015
State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd, Changsha, Hunan 410078 China.
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.
"Distal duplication 2q syndrome" OR "Distal trisomy 2q" OR "Telomeric duplication 2q" OR "Trisomy 2qter" OR "distal duplication 2q" OR "distal trisomy type 2q"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Distal duplication 2q syndrome" OR "Distal trisomy 2q" OR "Telomeric duplication 2q" OR "Trisomy 2qter" OR "distal duplication 2q" OR "distal trisomy type 2q" OR "partial duplication of the long arm of chromosome 2" OR "partial duplication of chromosome 2"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): UMLS:C4706361
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