ORPHA:261236
16p13.11 microdeletion syndrome
Also known as: Del(16)(p13.11) · Monosomy 16p13.11
Publications
53
52.7th percentile
Trials
0
Interventional, condition-specific
Researchers
565
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare partial deletion of the short arm of chromosome 16 syndrome characterized by global developmental, motor and language delay, , neuropsychiatric and behavioral problems, microcephaly, short stature, features (that may include brachycephaly, hypertelorism, epicanthus, down-slanting palpebral fissures, short nose, low-set ears, cleft palate, wide mouth and thin upper lip) and heart defects. Additional clinical features may include gastroesophageal reflux, pectus excavatum, torticollis, ligamentous hyperlaxity, obesity, body temperature instability, syndactyly, cryptorchidism, micropenis, and hypospadias.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0016836
- UMLS:C4304596
Additional Mondo synonyms (2)
16p13.11 recurrent microdeletion (neurocognitive disorder susceptibility locus) · monosomy 16p13.11
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
53 matched papers (48 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?
53
53 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.
53 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).
48 in the last 10 years · high confidence · 52.7th percentile (publications denominator)
Phrase hits: 53 · MeSH hits: 0
Who's working on it?
565
Distinct author names in 53 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.
- 01
- 02Li Y4 papers · 2025
Department of Obstetrics and Gynecology, The First Affiliated Hospital of Air Force Medical University, Xi'an, China.
Papers in Europe PMC - 03Lin N4 papers · 2021
Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou City, Fujian Province, 350001, People's Republic of China.
Papers in Europe PMC - 04Wang H4 papers · 2021
Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu 610041, China.
Papers in Europe PMC - 05Wang X4 papers · 2023
1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.
Papers in Europe PMC - 06Wang Y4 papers · 2025
Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Papers in Europe PMC - 07Xu L4 papers · 2021
Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou City, Fujian Province, 350001, People's Republic of China.
Papers in Europe PMC - 08Cai M3 papers · 2021
Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou City, Fujian Province, 350001, People's Republic of China.
Papers in Europe PMC - 09He Y3 papers · 2026
Department of Neurology, Children's Hospital of Nanjing Medical University, Nanjing 210008, Jiangsu Province, China.
Papers in Europe PMC - 10Hu T3 papers · 2021
Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu 610041, China.
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. 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
- NCT01238250·RECRUITING·Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Conditions: 16P11.2 Deletion Syndrome · 16p11.2 Duplications · 1Q21.1 Deletion · 1Q21.1 Microduplication Syndrome (Disorder)·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.
"16p13.11 microdeletion syndrome" OR "Del(16)(p13.11)" OR "Monosomy 16p13.11" OR "16p13.11 recurrent microdeletion (neurocognitive disorder susceptibility locus)"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"16p13.11 microdeletion syndrome" OR "Del(16)(p13.11)" OR "Monosomy 16p13.11" OR "16p13.11 recurrent microdeletion (neurocognitive disorder susceptibility locus)"
Study-type breakdown: 0 interventional · 1 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 2026-07-27T11:13:46.715Z