ORPHA:96078
16p13.3 microduplication syndrome
Also known as: Distal duplication 16p · Distal trisomy 16p · Dup(16)(p13.3) · Telomeric duplication 16p · Trisomy 16pter
Publications
25
33.9th percentile
Trials
0
Interventional, condition-specific
Researchers
231
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable which is mostly characterized by: mild to moderate intellectual deficit and (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems.
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:0013273
- OMIM:613458
- UMLS:C3150708
Additional Mondo synonyms (7)
chromosome 16p13.3 duplication syndrome · chromosome 16p13.3 duplication syndrome, isolated cases · distal duplication 16p · distal trisomy 16p · dup(16)(p13.3) · telomeric duplication 16p · trisomy 16pter
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
25 matched papers (16 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?
25
25 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.
25 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).
16 in the last 10 years · high confidence · 33.9th percentile (publications denominator)
Phrase hits: 25 · MeSH hits: 0
Who's working on it?
231
Distinct author names in 25 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.
- 01Liu Y3 papers · 2025
Department of Genetics, Jiangxi Maternal and Child Health Hospital, 330006, Nanchang, China.
Papers in Europe PMC - 02Feng L2 papers · 2025
Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Papers in Europe PMC - 03
- 04Li S2 papers · 2020
Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Papers in Europe PMC - 05
- 06
- 07Vu TH2 papers · 2025
Department of Medical Biology and Genetics, Hanoi Medical University, Hanoi 100000, Vietnam.
Papers in Europe PMC - 08Ahn YM1 paper · 2016
Department of Pediatrics, Eulji General Hospital, College of Medicine, Eulji University, Seoul, Republic of Korea.
Papers in Europe PMC - 09Alkhzouz C1 paper · 2021
Emergency Clinical Hospital for Children, Cluj-Napoca, Romania.
Papers in Europe PMC - 10Ally A1 paper · 2006Papers 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.
"16p13.3 microduplication syndrome" OR "Distal duplication 16p" OR "Distal trisomy 16p" OR "Dup(16)(p13.3)" OR "Telomeric duplication 16p" OR "Trisomy 16pter" OR "chromosome 16p13.3 duplication syndrome" OR "chromosome 16p13.3 duplication syndrome, isolated cases"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"16p13.3 microduplication syndrome" OR "Distal duplication 16p" OR "Distal trisomy 16p" OR "Dup(16)(p13.3)" OR "Telomeric duplication 16p" OR "Trisomy 16pter" OR "chromosome 16p13.3 duplication syndrome" OR "chromosome 16p13.3 duplication syndrome, isolated cases"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; 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 2026-07-27T04:51:55.261Z