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chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
Summary
- Synonym
-
- X-linked dominant chondrodysplasia, Chassaing-Lacombe type
- X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome
- Definition
- A syndrome characterized by chondrodysplasia associated with other features including intrauterine growth retardation, hydrocephaly, macrocephaly, frontal bossing, microphthalmia, small low-set ears, and short flat nose that has_material_basis_in heterozygous mutation in the HDAC6 gene on chromosome Xp11.23.
- Super Class
- X-linked chondrodysplasia punctata 2
External Links
- Disease Ontology
- DOID:0112106
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012789 | Hypoplasia of the calcaneus |
| HP:0003021 | Metaphyseal cupping |
| HP:0001423 | X-linked dominant inheritance |
