ORPHA:85173
IMAGe syndrome
Also known as: Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
179
69.1th percentile
Trials
0
Interventional, condition-specific
Researchers
1,341
Distinct authors in sample
Gene link
CDKN1C
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic disease characterized by intrauterine growth restriction, metaphyseal , adrenal hypoplasia, and genital anomalies (such as cryptorchidism, posterior hypospadias, and micropenis). Patients may present shortly after birth with severe adrenal insufficiency. Additional manifestations include postnatal growth failure and delayed bone age, mild , macrocephaly, mild facial dysmorphism (with frontal bossing, wide nasal bridge, and small, low-set ears), epiphyseal , and hypercalcemia/hypercalciuria, among others.
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:0013873
- OMIM:614732
- UMLS:C1846009
- NCIT:C130988
Additional Mondo synonyms (1)
intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — CDKN1C
- LiteraturePresent
179 matched papers (117 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?
Yes — we know a specific gene responsible (CDKN1C).
GenCC classification: Definitive.
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?
179
179 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.
179 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).
117 in the last 10 years · medium confidence · 69.1th percentile (publications denominator)
Phrase hits: 179 · MeSH hits: 0
Who's working on it?
1,341
Distinct author names in 179 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.
- 01Achermann JC12 papers · 2023
Genetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health, London, United Kingdom.
Papers in Europe PMC - 02Buonocore F9 papers · 2023
Genetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health, London, United Kingdom.
Papers in Europe PMC - 03del Valle I7 papers · 2023
Genetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health, London, United Kingdom.
Papers in Europe PMC - 04Hammer GD7 papers · 2025
Medizinische Klinik und Poliklinik III (S.R.B., A.B.), Universitätsklinikum Dresden, 01307 Dresden, Germany; Department of Endocrinology and Diabetes (S.R.B.), King's College London, London WC2R 2LS, United Kingdom; Department of Internal Medicine I (B.A.), Endocrine and Diabetes Unit, University Hospital Würzburg, 97080 Würzburg, Germany; Comprehensive Heart Failure Center (B.A.), University of Würzburg, 97080 Würzburg, Germany; Centre for Endocrinology, Diabetes, and Metabolism (W.A.), University of Birmingham, Birmingham B15 2TT, United Kingdom; Endokrinologikum Ruhr (A.B.), 44866 Bochum, Germany; Department of Pathology and Molecular Medicine (A.D.-W.), McMaster University, Hamilton, ON L8S 4L8, Canada; Hamilton Regional Laboratory Medicine Program (A.D.-W.), Hamilton, ON L8N 4A6, Canada; Department of Internal Medicine (G.D.H.), Division of Metabolism, Endocrinology, and Diabetes, and Cancer Center, University of Michigan, Ann Arbor, Michigan 48109; Department of Clinical Science, University of Bergen, and Department of Medicine, Haukeland University Hospital (E.S.H.), 5021 Bergen, Norway; National Institutes of Health Clinical Center (D.P.M.), Bethesda, Maryland 20814; Mayo Clinic, Division of Preventive Medicine (M.H.M.), Rochester, Minnesota 55905; Eunice Kennedy Shriver National Institute of Child Health and Human Development (C.A.S.), National Institutes of Health, Bethesda, Maryland 20892; and Endocrine and Metabolic Unit (D.J.T.), Royal Adelaide Hospital, University of Adelaide, Adelaide SA 5000, Australia.
Papers in Europe PMC - 05Suntharalingham JP7 papers · 2023
Genetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health, London, United Kingdom.
Papers in Europe PMC - 06Ishida M5 papers · 2024
University College London, Institute of Child Health, Genetics & Genomic Medicine programme, Genetics & Epigenetics in Health & Diseases Section, 30 Guilford Street, London, WC1N 1EH, UK.
Papers in Europe PMC - 07Savarirayan R5 papers · 2023
Department of Paediatrics, Victorian Clinical Genetics Service, University of Melbourne , Parkville.
Papers in Europe PMC - 08Dauber A4 papers · 2023
Division of Endocrinology, Children's National Hospital, Washington, DC 20012, USA.
Papers in Europe PMC - 09Fukami M4 papers · 2020
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Papers in Europe PMC - 10Jackson AP4 papers · 2020
MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, EH4 2XU, 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. 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.
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.
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
- NCT04569149·RECRUITING·Primordial Dwarfism Registry
Conditions: MOPDII · Meier-Gorlin Syndrome · Saul-Wilson Syndrome · Microcephalic Primordial Dwarfism·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.
"IMAGe syndrome" OR "Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"IMAGe syndrome" OR "Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome" OR "CDKN1C"
Recall-expansion terms: CDKN1C
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T02:47:01.024Z