X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Findings
No curated finding names X-linked dominant chondrodysplasia, Chassaing-Lacombe type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.
Definition from the Mondo Disease Ontology (MONDO:0010463), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked dominant inheritance
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
23 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.
- Depressed nasal ridgeHPOHP:0000457
- Very frequent (80% to 99% of cases)
- Frontal bossingHPOHP:0002007
- Very frequent (80% to 99% of cases)
- HydrocephalusHPOHP:0000238
- Very frequent (80% to 99% of cases)
- Hypoplastic iliac wingHPOHP:0002866
- Very frequent (80% to 99% of cases)
- Low-set earsHPOHP:0000369
- Very frequent (80% to 99% of cases)
- Metaphyseal chondrodysplasiaHPOHP:0005871
- Very frequent (80% to 99% of cases)
Show the remaining 11
- Short palmHPOHP:0004279
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Abnormality of the calcaneusHPOHP:0008364
- Frequent (30% to 79% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Frequent (30% to 79% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Frequent (30% to 79% of cases)
- Thin ribsHPOHP:0000883
- 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.
- HDAC6HGNC:14064
- Moderate · Genomics England PanelApp · X-linked · 2021
- Supportive · Orphanet · X-linked · 2021
- Limited · Labcorp Genetics (formerly Invitae) · X-linked · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: X-linked dominant chondrodysplasia, Chassaing-Lacombe type
- Also called
- chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, X-linked dominantX-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome