ORPHA:79345
Brachytelephalangic chondrodysplasia punctata
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
63
41.2th percentile
Trials
0
Interventional, condition-specific
Researchers
610
Distinct authors in sample
Gene link
ARSL
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of non-rhizomelic chondrodysplasia punctata, a primary bone , characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010555
- OMIM:302950
- UMLS:C3669395
Additional Mondo synonyms (7)
ARSE X-linked chondrodysplasia punctata · X-linked chondrodysplasia punctata 1 · X-linked chondrodysplasia punctata caused by mutation in ARSE · X-linked chondrodysplasia punctata caused by mutation in arse · arse X-linked chondrodysplasia punctata · brachytelephalangic chondrodysplasia punctata · chondrodysplasia punctata, X-linked recessive, X-linked recessive
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 — ARSL
- LiteraturePresent
63 matched papers (26 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 (ARSL).
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?
63
63 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.
63 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).
26 in the last 10 years · high confidence · 41.2th percentile (publications denominator)
Phrase hits: 63 · MeSH hits: 0
Who's working on it?
610
Distinct author names in 63 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.
- 01Brunetti-Pierri N4 papers · 2018
Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Department of Translational Medicine, Federico II University of Naples, Italy.
Papers in Europe PMC - 02Parenti G3 papers · 2018
Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Department of Translational Medicine, Federico II University of Naples, Italy.
Papers in Europe PMC - 03Becker LC2 papers · 2023
Division of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Papers in Europe PMC - 04Boerwinkle E2 papers · 2023
Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.
Papers in Europe PMC - 05Braverman N2 papers · 2013Papers in Europe PMC
- 06Garel C2 papers · 2009Papers in Europe PMC
- 07Guo X2 papers · 2023
BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.
Papers in Europe PMC - 08Gupta N2 papers · 2024
Genetic Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Papers in Europe PMC - 09Hall CM2 papers · 2015Papers in Europe PMC
- 10Herman TE2 papers · 2010
St. Louis Children's Hospital Department of Radiology, 510 South Kingshighway Blvd., St. Louis, MO 63110, USA. hermant@mir.wustl.edu
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.
"Brachytelephalangic chondrodysplasia punctata" OR "ARSE X-linked chondrodysplasia punctata" OR "X-linked chondrodysplasia punctata 1" OR "X-linked chondrodysplasia punctata caused by mutation in ARSE" OR "chondrodysplasia punctata, X-linked recessive, X-linked recessive"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Brachytelephalangic chondrodysplasia punctata" OR "ARSE X-linked chondrodysplasia punctata" OR "X-linked chondrodysplasia punctata 1" OR "X-linked chondrodysplasia punctata caused by mutation in ARSE" OR "chondrodysplasia punctata, X-linked recessive, X-linked recessive" OR "ARSL" OR "X-linked chondrodysplasia punctata" OR "non-rhizomelic chondrodysplasia punctata"
Recall-expansion terms: ARSL, X-linked chondrodysplasia punctata, non-rhizomelic chondrodysplasia punctata
Study-type breakdown: 0 interventional · 0 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 multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T02:19:36.812Z