ORPHA:506307
Stromme syndrome
Also known as: Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome · Jejunal atresia-microcephaly-ocular anomalies syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
4,965
Trials
0
Interventional, condition-specific
Researchers
306
Distinct authors in sample
Gene link
CENPF
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare multiple anomalies syndrome usually characterized by microcephaly, ocular anomalies such as microphthalmia, and apple-peel intestinal atresia. Facial dysmorphism is reported in some cases and may include narrow or sloped forehead, hypertelorism, microphthalmia, dysplastic, edematous deep-set eyes, short palpebral fissures, large or low set ears, broad nasal root, anteverted or broad nasal tip, long philtrum, micrognathia, thin upper vermillion, large mouth and skin tag on the cheek. Motor delay and have been reported. Heart, brain, craniofacial abnormalities, renal hypoplasia and other anomalies (e.g. lower limb edema, thrombocytopenia) are variably present. Rarely, cases without intestinal atresia, microcephaly or can be found. Severe lethal cases have also 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:0009477
- MeSH:C565460
- OMIM:243605
- OMIM:616369
- UMLS:C1855705
Additional Mondo synonyms (8)
CILD31 · apple peel syndrome with microcephaly and ocular anomalies · apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome · ciliary dyskinesia, primary, type 31 · jejunal atresia with microcephaly and ocular anomalies · jejunal atresia-microcephaly-ocular anomalies syndrome · lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome · lethal foetal brain malformation-duodenal atresia-bilateral renal hypoplasia 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
Strong — CENPF
- LiteraturePresent
4,965 matched papers (3,604 in last 10 years) Source
- Phenotype characterisedPresent
30 HPO annotations (e.g. Jejunal atresia; Agenesis of corpus callosum; Hydrocephalus) 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 (CENPF).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
30
Associated phenotypes · MONDO:0009477
- Jejunal atresia
- Agenesis of corpus callosum
- Hydrocephalus
- Cerebellar vermis hypoplasia
- Wide mouth
Showing 5 of 30 — 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?
4,965
4,965 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
4,965 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).
3,604 in the last 10 years · low confidence
Phrase hits: 54 · MeSH hits: 0
Who's working on it?
306
Distinct author names in 54 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.
- 01Filges I4 papers · 2020
Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland. Isabel.filges@usb.ch.
Papers in Europe PMC - 02Strømme P4 papers · 2023
Section for Clinical Neurosciences, Department of Pediatrics, Oslo University Hospital and University of Oslo, Oslo, Norway.
Papers in Europe PMC - 03
- 04
- 05Hoesli I3 papers · 2019
Department of Obstetrics and Gynecology, University Hospital Basel, Basel, Switzerland.
Papers in Europe PMC - 06Liu Y3 papers · 2025
Department of Genetics, Jiangxi Maternal and Child Health Hospital, 330006, Nanchang, China.
Papers in Europe PMC - 07Miny P3 papers · 2019
Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.
Papers in Europe PMC - 08
- 09
- 10Zhang J3 papers · 2025
Health Inspection and Quarantine, College of Medical Laboratory, Dalian Medical University, Dalian, 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 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.
low 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 Stromme 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.
("Stromme syndrome" OR "Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome" OR "Jejunal atresia-microcephaly-ocular anomalies syndrome" OR "CILD31" OR "apple peel syndrome with microcephaly and ocular anomalies" OR "ciliary dyskinesia, primary, type 31" OR "jejunal atresia with microcephaly and ocular anomalies" OR "lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome" OR "lethal foetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome") OR (MESH:"Jejunal Atresia with Microcephaly and Ocular Anomalies") OR ("CENPF" OR "CENPF syndrome" OR "CENPF-related")MeSH descriptor terms unioned into the query: Jejunal Atresia with Microcephaly and Ocular Anomalies
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Stromme syndrome" OR "Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome" OR "Jejunal atresia-microcephaly-ocular anomalies syndrome" OR "CILD31" OR "apple peel syndrome with microcephaly and ocular anomalies" OR "ciliary dyskinesia, primary, type 31" OR "jejunal atresia with microcephaly and ocular anomalies" OR "lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome" OR "lethal foetal brain malformation-duodenal atresia-bilateral renal hypoplasia 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 short or not clearly distinctive
- No synonyms dropped by stoplist
- "lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome" also appears on ORPHA:444069
- Publication count (4965) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T17:55:10.930Z