ORPHA:175
Cartilage-hair hypoplasia
Also known as: Autosomal recessive metaphyseal chondrodysplasia · Metaphyseal chondrodysplasia, McKusick type
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
971
88.9th percentile
Trials
1
Interventional, condition-specific
Researchers
1,282
Distinct authors in sample
Gene link
RMRP
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare chondrodysplasia characterized by disproportional small stature due to metaphyseal lesions associated with fine slow growing hair.
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:0009595
- MeSH:C535916
- OMIM:250250
- UMLS:C0220748
- NCIT:C61245
Additional Mondo synonyms (5)
McKusick Type Metaphyseal Chondrodysplasia · autosomal recessive metaphyseal chondrodysplasia · cartilage hair hypoplasia · cartilage-hair hypoplasia · metaphyseal chondrodysplasia, McKusick type
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — RMRP
- LiteraturePresent
971 matched papers (429 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 trialPresent
1 matched on ClinicalTrials.gov
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 (RMRP).
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?
971
971 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=5449) is 41.
971 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).
429 in the last 10 years · high confidence · 88.9th percentile (publications denominator)
Phrase hits: 971 · MeSH hits: 0
Who's working on it?
1,282
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Mäkitie O31 papers · 2026
Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Folkhälsan Research Center, Helsinki, Finland; Center for Molecular Medicine, Karolinska Institutet and Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. Electronic address: outi.makitie@helsinki.fi.
Papers in Europe PMC - 02Vakkilainen S21 papers · 2026
New Children's Hospital, Pediatric Research Center, University of Helsinki and HUS Helsinki University Hospital, Helsinki, Finland svetlana.vakkilainen@hus.fi.
Papers in Europe PMC - 03Taskinen M12 papers · 2024
Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Papers in Europe PMC - 04Klemetti P10 papers · 2024
Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Papers in Europe PMC - 05Toiviainen-Salo S7 papers · 2026
HUS Medical Imaging Center, Radiology, Helsinki University Central Hospital, Helsinki, Finland.
Papers in Europe PMC - 06Kostjukovits S6 papers · 2017
Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Folkhälsan Research Center, Helsinki, Finland.
Papers in Europe PMC - 07Valta H6 papers · 2022
Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Papers in Europe PMC - 08Holopainen E5 papers · 2020
Department of Reproductive Medicine, Women's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland. Electronic address: elina.holopainen@hus.fi.
Papers in Europe PMC - 09Chandra S4 papers · 2023
Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, and the Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.
Papers in Europe PMC - 10Kainulainen L4 papers · 2026
Department of Pediatrics and Adolescents, Turku University Hospital, University of Turku, Turku, Finland.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
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.
"Cartilage-hair hypoplasia" OR "Autosomal recessive metaphyseal chondrodysplasia" OR "Metaphyseal chondrodysplasia, McKusick type" OR "McKusick Type Metaphyseal Chondrodysplasia" OR "cartilage hair hypoplasia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Cartilage-hair hypoplasia" OR "Autosomal recessive metaphyseal chondrodysplasia" OR "Metaphyseal chondrodysplasia, McKusick type" OR "McKusick Type Metaphyseal Chondrodysplasia" OR "cartilage hair hypoplasia" OR "RMRP"
Recall-expansion terms: RMRP
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 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 2026-07-26T12:45:38.877Z