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GTR Home > Conditions/Phenotypes > X-linked dominant chondrodysplasia, Chassaing-Lacombe type

X-linked dominant chondrodysplasia, Chassaing-Lacombe type

Synonyms
Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
Modes of inheritance
X-linked dominant inheritance (Orphanet)

Summary

X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males. [from ORDO]

Available tests

7 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CPBHM, HD6, JM21, KDAC6, PPP1R90, HDAC6
    Summary: histone deacetylase 6

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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