ORPHA:1553
Curry-Jones syndrome
Also known as: Corpus callosum agenesis-polysyndactyly syndrome
Publications
106
56th percentile
Trials
0
Interventional, condition-specific
Researchers
539
Distinct authors in sample
Gene link
SMO
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine ( short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). and variable degrees of may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.
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:0011134
- MeSH:C536735
- OMIM:601707
- UMLS:C0795915
Additional Mondo synonyms (3)
Curry-Jones syndrome, somatic mosaic · corpus callosum agenesis-polysyndactyly syndrome · curry-Jones 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.”
3/6 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 — SMO
- LiteraturePresent
106 matched papers (92 in last 10 years) Source
- Phenotype characterisedPresent
51 HPO annotations (e.g. Megalencephaly; Intestinal pseudo-obstruction; Bicoronal synostosis) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (SMO).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
51
Associated phenotypes · MONDO:0011134
- Megalencephaly
- Intestinal pseudo-obstruction
- Bicoronal synostosis
- Chronic constipation
- Iris coloboma
Showing 5 of 51 — 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?
106
106 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=3967) is 59.
106 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).
92 in the last 10 years · high confidence · 56th percentile (publications denominator)
Phrase hits: 76 · MeSH hits: 0
Who's working on it?
539
Distinct author names in 76 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.
- 01Jones MC3 papers · 2017
Department of Pediatrics, University of California, San Diego, and Rady Children's Hospital, San Diego, CA 92123, USA.
Papers in Europe PMC - 02Twigg SRF3 papers · 2020
Clinical Genetics Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK.
Papers in Europe PMC - 03Wilkie AOM3 papers · 2017
aClinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital bOxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre cCraniofacial Unit, John Radcliffe Hospital, Headington, Oxford, UK.
Papers in Europe PMC - 04Brady AF2 papers · 2016
North West Thames Regional Genetics Service, Kennedy-Galton Centre, Northwick Park Hospital, Harrow HA1 3UJ, UK.
Papers in Europe PMC - 05Chang VY2 papers · 2020
Division of Hematology-Oncology, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.
Papers in Europe PMC - 06Choate KA2 papers · 2022
Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut 06520, USA; email: keith.choate@yale.edu.
Papers in Europe PMC - 07Christodoulou J2 papers · 2022
Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, 50 Flemington Rd, Parkville VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, 3010 Victoria, Australia.
Papers in Europe PMC - 08Clericuzio CL2 papers · 2016
Division of Genetics/Dysmorphology, Department of Pediatrics, University of New Mexico, Albuquerque, NM 87131, USA.
Papers in Europe PMC - 09Cormier-Daire V2 papers · 2023
Paris Cité University, Reference Center for Skeletal Dysplasia, INSERM UMR 1163, Imagine Institute, Necker Enfants Malades Hospital (AP-HP), Paris, France.
Papers in Europe PMC - 10Davidson TB2 papers · 2020
Division of Hematology-Oncology, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.
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 2026-07-29
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 Curry-Jones syndrome — check Associations / patient organisations on that page.
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.
("Curry-Jones syndrome" OR "Corpus callosum agenesis-polysyndactyly syndrome" OR "Curry-Jones syndrome, somatic mosaic") OR ("SMO syndrome" OR "SMO-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Curry-Jones syndrome" OR "Corpus callosum agenesis-polysyndactyly syndrome" OR "Curry-Jones syndrome, somatic mosaic"
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 2026-07-26T17:42:40.304Z