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ORPHA:261222

Distal 16p11.2 microdeletion syndrome

high confidenceDisorder

Also known as: Distal del(16)(p11.2) · Distal monosomy 16p11.2

Publications

3

8th percentile

Trials

0

Interventional, condition-specific

Researchers

40

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable typically characterized by , mild and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, , vertebral anomalies and obesity are frequently associated.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (5)

body mass index QTL16 · chromosome 16p11.2 deletion syndrome, type 220kb · distal 16p11.2 microdeletion syndrome · distal del(16)(p11.2) · distal monosomy 16p11.2

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.”

2/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    3 matched papers (1 in last 10 years) Source

  3. Phenotype characterisedPresent

    31 HPO annotations (e.g. Prominent nasal bridge; Rod-cone dystrophy; Neonatal hypotonia) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

31

Associated phenotypes · MONDO:0013267

  • Prominent nasal bridge
  • Rod-cone dystrophy
  • Neonatal hypotonia
  • Migraine
  • Attention deficit hyperactivity disorder

Showing 5 of 31 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

3

3 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=3967) is 59.

3 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1 in the last 10 years · high confidence · 8th percentile (publications denominator)

Phrase hits: 3 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

40

Distinct author names in 3 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.

  1. 01
    Aerts E1 paper · 2015

    Centre of Medical Genetics, University of Antwerp, Antwerp, Belgium.

    Papers in Europe PMC
  2. 02
    Beckers S1 paper · 2015

    Centre of Medical Genetics, University of Antwerp, Antwerp, Belgium.

    Papers in Europe PMC
  3. 03
    Blumenthal I1 paper · 2014

    Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.

    Papers in Europe PMC
  4. 04
    Borg I1 paper · 2020

    Department of Pathology, Faculty of Medicine and Surgery, University of Malta, MSD 2080 Msida, Malta.

    Papers in Europe PMC
  5. 05
    Cuturilo G1 paper · 2020

    Faculty of Medicine, University of Belgrade, Dr Subotica 8, 11000 Belgrade, Serbia.

    Papers in Europe PMC
  6. 06
    de Stefano MC1 paper · 2020

    Italian National Transplant Center, Italian National Institute of Health, 00161 Rome, Italy.

    Papers in Europe PMC
  7. 07
    Devlin B1 paper · 2014

    Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.

    Papers in Europe PMC
  8. 08
    Erdin S1 paper · 2014

    Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.

    Papers in Europe PMC
  9. 09
    Ernst C1 paper · 2014

    Department of Psychiatry, McGill University, Douglas Hospital Research Institute, Montreal, QC H4H 1R3, Canada.

    Papers in Europe PMC
  10. 10
    Gallagher L1 paper · 2020

    Trinity Institute of Neurosciences, Trinity College Dublin, University of Dublin, Dublin 152-160, Ireland.

    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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

high confidence · 38.6th 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.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Distal 16p11.2 microdeletion syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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 16p11.2 microdeletion syndrome" OR "Distal del(16)(p11.2)" OR "Distal monosomy 16p11.2" OR "body mass index QTL16" OR "chromosome 16p11.2 deletion syndrome, type 220kb"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Distal 16p11.2 microdeletion syndrome" OR "Distal del(16)(p11.2)" OR "Distal monosomy 16p11.2" OR "body mass index QTL16" OR "chromosome 16p11.2 deletion syndrome, type 220kb"

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 2026-07-27T11:13:31.494Z