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chondrodysplasia-pseudohermaphroditism syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

chondrodysplasia-pseudohermaphroditism syndrome

MONDO:0010814

Also known as:Nivelon-Nivelon-Mabille syndromechondrodysplasia-disorder of sex development syndrome

Overview

Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development, reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY 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 disks), dysmorphic 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. An autosomal recessive inheritance has been suggested.

GeneticsAutosomal recessive · HHAT (chr 1)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Upslanted palpebral fissure, Distal clavicular thinning, and Bell-shaped thorax and others; and very common findings: Severe short stature, Microcephaly, Micromelia, and Short metacarpal and others. 37 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

HHAT encodes hedgehog acyltransferase (493 aa). Palmitoyl acyltransferase that catalyzes N-terminal palmitoylation of SHH; which is required for SHH signaling. It also catalyzes N-terminal palmitoylation of DHH. Highest expression in Thyroid (4.9 TPM) and Adrenal Gland (4.8 TPM).

Chondrodysplasia-pseudohermaphroditism syndrome is associated with mutations in the HHAT gene on chromosome 1.

The HHAT protein participates in HHAT palmitoylates Hh N-terminal fragment, HHAT G287V doesn't palmitoylate Hh-Np, and HHAT G278V doesn't palmitoylate Hh-Np pathways.

HHAT is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.

Diagnosis

Genetic testing for HHAT is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for chondrodysplasia-pseudohermaphroditism syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 always present features, 14 very common features, 18 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for chondrodysplasia-pseudohermaphroditism syndrome.

301 publications have been identified in PubMed for chondrodysplasia-pseudohermaphroditism syndrome. Kisho has analyzed 141 by research type. Research spans Review / Meta-Analysis (63%), Basic Science / Preclinical (13%), and Epidemiology / Natural History (12%).

Research Type	Count	% of Total
Research summaries	89	63%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600092

Orphanet

European rare disease database

Orphanet:1422

GARD

Genetic and Rare Diseases Info Center

GARD:16565

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

chondrodysplasia-pseudohermaphroditism syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

chondrodysplasia-pseudohermaphroditism syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications