ORPHA:35173
X-linked dominant chondrodysplasia punctata
Also known as: CDPX2 · CDPXD · CPXD · Chondrodystrophia calcificans congenita · Conradi-Hünermann-Happle syndrome · X-linked chondrodysplasia punctata type 2
Publications
2,432
89.1th percentile
Trials
0
Interventional, condition-specific
Researchers
1,115
Distinct authors in sample
Gene link
EBP
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genodermatosis disease with great phenotypic variation and characterized most commonly by ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0020603
- OMIM:302960
- UMLS:C0282102
Additional Mondo synonyms (11)
Conrad Hunermann Happle syndrome · Conradi Hunermann syndrome · Conradi Hünermann Syndrome · Conradi-Hunermann syndrome · Conradi-Hunermann-Happle syndrome · EBP chondrodysplasia punctata · Happle syndrome · chondrodysplasia punctata 2 X-linked dominant · chondrodysplasia punctata 2, X-linked dominant · chondrodysplasia punctata caused by mutation in EBP · chondrodysplasia punctata, X-linked dominant, X-linked dominant
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 — EBP
- LiteraturePresent
2,432 matched papers (1,372 in last 10 years) Source
- Phenotype characterisedPresent
92 HPO annotations (e.g. Cataract; Anomalous tracheal cartilage; Depressed nasal bridge) 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 (EBP).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
92
Associated phenotypes · MONDO:0020603
- Cataract
- Anomalous tracheal cartilage
- Depressed nasal bridge
- Anterior rib punctate calcifications
- Scaling skin
Showing 5 of 92 — 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?
2,432
2,432 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.
2,432 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).
1,372 in the last 10 years · medium confidence · 89.1th percentile (publications denominator)
Phrase hits: 1,654 · MeSH hits: 0
Who's working on it?
1,115
Distinct author names in 200 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.
- 01Hoyt JR11 papers · 2026
Department of Biological Sciences, Virginia Polytechnic Institute, Blacksburg, Virginia, USA.
Papers in Europe PMC - 02Langwig KE10 papers · 2026
Department of Biological Sciences, Virginia Polytechnic Institute, Blacksburg, Virginia, USA.
Papers in Europe PMC - 03White JP8 papers · 2026
Wisconsin Department of Natural Resources, Madison, Wisconsin, USA.
Papers in Europe PMC - 04DePue JE7 papers · 2026
Michigan Department of Natural Resources, Baraga, Michigan, USA.
Papers in Europe PMC - 05Kaarakka HM7 papers · 2026
Wisconsin Department of Natural Resources, Madison, Wisconsin, USA.
Papers in Europe PMC - 06Redell JA7 papers · 2026
Wisconsin Department of Natural Resources, Madison, Wisconsin, USA.
Papers in Europe PMC - 07Foster JT6 papers · 2025
Pathogen and Microbiome Institute, Northern Arizona University, Flagstaff, Arizona, USA.
Papers in Europe PMC - 08Fischer J5 papers · 2026
Institute of Human Genetics, Medical Faculty and Medical Center, University of Freiburg, Freiburg, Germany.
Papers in Europe PMC - 09Kilpatrick AM5 papers · 2023
Department of Ecology and Evolutionary Biology, University of California, Santa Cruz, Santa Cruz, California, USA.
Papers in Europe PMC - 10Parise KL5 papers · 2023
Pathogen and Microbiome Institute, Northern Arizona University, Flagstaff, Arizona, USA.
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.
medium 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 X-linked dominant chondrodysplasia punctata — 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.
("X-linked dominant chondrodysplasia punctata" OR "CDPX2" OR "CDPXD" OR "Chondrodystrophia calcificans congenita" OR "Conradi-Hünermann-Happle syndrome" OR "X-linked chondrodysplasia punctata type 2" OR "Conrad Hunermann Happle syndrome" OR "Conradi Hunermann syndrome" OR "Conradi Hünermann Syndrome" OR "Conradi-Hunermann syndrome" OR "Conradi-Hunermann-Happle syndrome" OR "EBP chondrodysplasia punctata" OR "Happle syndrome" OR "chondrodysplasia punctata 2 X-linked dominant" OR "chondrodysplasia punctata 2, X-linked dominant" OR "chondrodysplasia punctata caused by mutation in EBP" OR "chondrodysplasia punctata, X-linked dominant, X-linked dominant") OR ("EBP syndrome" OR "EBP-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"X-linked dominant chondrodysplasia punctata" OR "CDPX2" OR "CDPXD" OR "Chondrodystrophia calcificans congenita" OR "Conradi-Hünermann-Happle syndrome" OR "X-linked chondrodysplasia punctata type 2" OR "Conrad Hunermann Happle syndrome" OR "Conradi Hunermann syndrome" OR "Conradi Hünermann Syndrome" OR "Conradi-Hunermann syndrome" OR "Conradi-Hunermann-Happle syndrome" OR "EBP chondrodysplasia punctata" OR "Happle syndrome" OR "chondrodysplasia punctata 2 X-linked dominant" OR "chondrodysplasia punctata 2, X-linked dominant" OR "chondrodysplasia punctata caused by mutation in EBP" OR "chondrodysplasia punctata, X-linked dominant, X-linked dominant"
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
Synonyms dropped by stoplist: CPXD
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T23:45:54.616Z