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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:0000457 | Depressed nasal ridge |
| HP:0001522 | Death in infancy |
| HP:0000154 | Wide mouth |
| HP:0002866 | Hypoplastic iliac wing |
| HP:0000926 | Platyspondyly |
| HP:0005871 | Metaphyseal chondrodysplasia |
| HP:0000369 | Low-set ears |
| HP:0001511 | Intrauterine growth retardation |
| HP:0008364 | Abnormality of the calcaneus |
| HP:0000568 | Microphthalmia |
