RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:1422

Chondrodysplasia-difference of sex development syndrome

low confidenceDisorder

Also known as: Chondrodysplasia-disorder of sex development syndrome · Chondrodysplasia-pseudohermaphroditism syndrome · Nivelon-Nivelon-Mabille syndrome

Publications

690

Trials

0

Interventional, condition-specific

Researchers

93

Distinct authors in sample

Gene link

HHAT

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare difference of sex development affecting 46,XY individuals and characterized by complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia.

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (2)

chondrodysplasia-disorder of sex development syndrome · chondrodysplasia-pseudohermaphroditism syndrome

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Strong — HHAT

  2. LiteraturePresent

    690 matched papers (447 in last 10 years) Source

  3. Phenotype characterisedPresent

    45 HPO annotations (e.g. Bilateral tonic-clonic seizure; Cerebellar vermis hypoplasia; Upslanted palpebral fissure) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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 (HHAT).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

45

Associated phenotypes · MONDO:0010814

  • Bilateral tonic-clonic seizure
  • Cerebellar vermis hypoplasia
  • Upslanted palpebral fissure
  • Hypotonia
  • Short metacarpal

Showing 5 of 45 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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?

690

690 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.

690 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).

447 in the last 10 years · low confidence

Phrase hits: 9 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

93

Distinct author names in 9 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.

  1. 01
    Girisha KM2 papers · 2023

    Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.

    Papers in Europe PMC
  2. 02
    Abdel-Salam GMH1 paper · 2019

    Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

    Papers in Europe PMC
  3. 03
    Abhinay A1 paper · 2024

    Division of Pediatric Nephrology, Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India.

    Papers in Europe PMC
  4. 04
    Ali H1 paper · 2023

    INSERM, US14-Orphanet, Paris, France.

    Papers in Europe PMC
  5. 05
    Alkuraya FS1 paper · 2019

    Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

    Papers in Europe PMC
  6. 06
    Andrino S1 paper · 2022

    Neurología Veterinaria, C. Del Diseño 26, Nave 39, Getafe, 28906 Madrid, Spain.

    Papers in Europe PMC
  7. 07
    Antonarakis SE1 paper · 2014

    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland; iGE3, Institute of Genetics and Genomics of Geneva, University of Geneva, Geneva, Switzerland.

    Papers in Europe PMC
  8. 08
    Arı ABD1 paper · 2025

    Department of Pediatric Genetics, University of Health Sciences, Ankara Bilkent City Children's Hospital, Ankara, Turkey.

    Papers in Europe PMC
  9. 09
    Arı H1 paper · 2025

    Department of Pediatric Endocrinology, University of Health Sciences, Ankara Etlik City Children's Hospital, Ankara, Turkey.

    Papers in Europe PMC
  10. 10
    Baz-Redón N1 paper · 2022

    Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, Spain.

    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 2026-07-29

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 Chondrodysplasia-difference of sex development syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

("Chondrodysplasia-difference of sex development syndrome" OR "Chondrodysplasia-difference of the sex development syndrome" OR "Chondrodysplasia-disorder of sex development syndrome" OR "Chondrodysplasia-disorder of the sex development syndrome" OR "Chondrodysplasia-pseudohermaphroditism syndrome" OR "Nivelon-Nivelon-Mabille syndrome") OR ("HHAT" OR "HHAT syndrome" OR "HHAT-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Chondrodysplasia-difference of sex development syndrome" OR "Chondrodysplasia-difference of the sex development syndrome" OR "Chondrodysplasia-disorder of sex development syndrome" OR "Chondrodysplasia-disorder of the sex development syndrome" OR "Chondrodysplasia-pseudohermaphroditism syndrome" OR "Nivelon-Nivelon-Mabille syndrome"

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

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 (690) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T17:17:34.135Z