ORPHA:240760
Nijmegen breakage syndrome-like disorder
Also known as: Microcephaly and chromosomal instability without immunodeficiency · NBS-like disorder · NBSLD · RAD50 deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
14,662
Trials
0
Interventional, condition-specific
Researchers
940
Distinct authors in sample
Gene link
RAD50
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Nijmegen breakage syndrome-like disorder is a rare, genetic multiple anomalies/ syndrome characterized by growth retardation, short stature, , , craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive , hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.
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:0013118
- MeSH:C567767
- OMIM:613078
- UMLS:C2751318
- NCIT:C153178
Additional Mondo synonyms (2)
NBs-like disorder · microcephaly and chromosomal instability without immunodeficiency
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 — RAD50
- LiteraturePresent
14,662 matched papers (8,167 in last 10 years) Source
- Phenotype characterisedPresent
10 HPO annotations (e.g. Short stature; Ataxia; Growth delay) 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 (RAD50).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
10
Associated phenotypes · MONDO:0013118
- Short stature
- Ataxia
- Growth delay
- Intellectual disability
- Chromosomal breakage induced by ionizing radiation
Showing 5 of 10 — 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?
14,662
14,662 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
14,662 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).
8,167 in the last 10 years · low confidence
Phrase hits: 141 · MeSH hits: 0
Who's working on it?
940
Distinct author names in 141 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.
- 01Dörk T8 papers · 2025
Department of Gynecology and Obstetrics, Hannover Medical School, Hannover, Germany.
Papers in Europe PMC - 02Lavin MF5 papers · 2015
QIMR Berghofer Medical Research Institute, Radiation Biology and Oncology Laboratory, Brisbane, Queensland, Australia; School of Medicine, University of Queensland, Herston, Queensland, Australia.
Papers in Europe PMC - 03Petrini JH5 papers · 2015
Molecular Biology Program, Memorial Sloan-Kettering Cancer Center, New York, NY 10021, USA. Electronic address: petrinij@mskcc.org.
Papers in Europe PMC - 04Stracker TH5 papers · 2022
Institute for Research in Biomedicine (IRB Barcelona), Barcelona 08028, Spain Travis.Stracker@irbbarcelona.org.
Papers in Europe PMC - 05Bousset K4 papers · 2025
Department of Gynecology and Obstetrics, Hannover Medical School, Hannover, Germany.
Papers in Europe PMC - 06Gatei M4 papers · 2015
The University of Queensland, UQ Centre for Clinical Research, University of Queensland, Brisbane, Queensland 4029, Australia.
Papers in Europe PMC - 07Hohl M4 papers · 2020
Laboratory of Chromosome Biology, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
Papers in Europe PMC - 08Hopfner KP4 papers · 2014
Department of Biochemistry and Gene Center, Ludwig-Maximilians-University, 81377 Munich, Germany Center for Integrated Protein Sciences, 81377 Munich, Germany.
Papers in Europe PMC - 09Kijas AW4 papers · 2015
The University of Queensland, UQ Centre for Clinical Research, University of Queensland, Brisbane, Queensland 4029, Australia.
Papers in Europe PMC - 10Li L4 papers · 2023
BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, 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 Nijmegen breakage syndrome-like disorder — 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.
("Nijmegen breakage syndrome-like disorder" OR "Microcephaly and chromosomal instability without immunodeficiency" OR "NBS-like disorder" OR "NBSLD" OR "RAD50 deficiency") OR (MESH:"Nijmegen Breakage Syndrome-Like Disorder") OR ("RAD50" OR "RAD50 syndrome" OR "RAD50-related")MeSH descriptor terms unioned into the query: Nijmegen Breakage Syndrome-Like Disorder
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Nijmegen breakage syndrome-like disorder" OR "Microcephaly and chromosomal instability without immunodeficiency" OR "NBS-like disorder" OR "NBSLD" OR "RAD50 deficiency"
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
- No label/synonym collisions with other diseases in this corpus
- Publication count (14662) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T10:28:13.593Z