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 3 strategies returned hits (phrase).
Publications
141
65.3th percentile
Trials
0
Interventional, condition-specific
Researchers
940
Distinct authors in sample
Gene link
RAD50
Strong
Readiness
2/6
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.”
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
Strong — RAD50
- LiteraturePresent
141 matched papers (93 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 (RAD50).
GenCC classification: Strong.
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?
141
141 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.
141 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).
93 in the last 10 years · high confidence · 65.3th percentile (publications denominator)
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 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.
high 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.
"Nijmegen breakage syndrome-like disorder" OR "Microcephaly and chromosomal instability without immunodeficiency" OR "NBS-like disorder" OR "NBSLD" OR "RAD50 deficiency"
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" OR "RAD50"
Recall-expansion terms: RAD50
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; 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 2026-07-27T10:28:13.593Z