chondrodysplasia-pseudohermaphroditism syndrome
Findings
No curated finding names chondrodysplasia-pseudohermaphroditism syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0010814), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
37 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bell-shaped thoraxHPOHP:0001591
- 2 of 2 reported patients
- Distal clavicular thinningHPOHP:0025681
- 2 of 2 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 2 of 2 reported patients
- Hypoplasia of the irisHPOHP:0007676
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Male pseudohermaphroditismHPOHP:0000037
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HHATHGNC:18270
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: chondrodysplasia-pseudohermaphroditism syndrome
- Also called
- chondrodysplasia-disorder of sex development syndromeNivelon-Nivelon-Mabille syndrome