ORPHA:264200
14q22q23 microdeletion syndrome
Also known as: 14q22-q23 microdeletion syndrome · Del(14)(q22q23) · Monosomy 14q22-q23 · Monosomy 14q22q23
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
56
37.8th percentile
Trials
0
Interventional, condition-specific
Researchers
351
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular , psychomotor development delay/, signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.
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:0012324
- MeSH:C535639
- OMIM:609640
- UMLS:C1864825
Additional Mondo synonyms (3)
Frias syndrome · monosomy 14q22-q23 · monosomy 14q22q23
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
56 matched papers (21 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?
56
56 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.
56 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).
21 in the last 10 years · medium confidence · 37.8th percentile (publications denominator)
Phrase hits: 56 · MeSH hits: 0
Who's working on it?
351
Distinct author names in 56 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.
- 01Abramowicz M2 papers · 2010Papers in Europe PMC
- 02Amaral S2 papers · 2016
Division of Nephrology, The Department of Pediatrics, The Children's Hospital of Philadelphia, 34th Street and Civic Center Blvd, Philadelphia, 19147, PA, USA.
Papers in Europe PMC - 03Brothers J2 papers · 2016
Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Papers in Europe PMC - 04Chiotos K2 papers · 2016
Division of Critical Care Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Papers in Europe PMC - 05Désir J2 papers · 2010Papers in Europe PMC
- 06Kakajiwala A2 papers · 2016
Division of Nephrology, The Department of Pediatrics, The Children's Hospital of Philadelphia, 34th Street and Civic Center Blvd, Philadelphia, 19147, PA, USA. kakajiwalaa@email.chop.edu.
Papers in Europe PMC - 07Lederman A2 papers · 2016
Division of Nephrology, The Department of Pediatrics, The Children's Hospital of Philadelphia, 34th Street and Civic Center Blvd, Philadelphia, 19147, PA, USA.
Papers in Europe PMC - 08MacDonald A2 papers · 2014Papers in Europe PMC
- 09Martínez-Frías ML2 papers · 2014
Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain. mlmartinez.frias@isciii.es
Papers in Europe PMC - 10Patel RV2 papers · 2014
Department of Paediatric Urology, University College London Hospitals NHS Foundation Trust, London, UK Department of Paediatric Urology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
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.
medium 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.
"14q22q23 microdeletion syndrome" OR "14q22-q23 microdeletion syndrome" OR "Del(14)(q22q23)" OR "Monosomy 14q22-q23" OR "Monosomy 14q22q23" OR "Frias syndrome"
MeSH descriptor terms unioned into the query: Frias syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"14q22q23 microdeletion syndrome" OR "14q22-q23 microdeletion syndrome" OR "Del(14)(q22q23)" OR "Monosomy 14q22-q23" OR "Monosomy 14q22q23" OR "Frias syndrome"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- "Frias syndrome" also appears on ORPHA:2055
Ingested 2026-07-27T11:24:45.333Z