chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia

Term ID

DOID:0112106

Synonyms

• 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. https://pubmed.ncbi.nlm.nih.gov/16001442/

References

• OMIM:300863
• ORDO:163966

Ontology

Human Disease   ( DOID:0112106 )