Term Name: chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
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.
Ontology: Human Disease [DOID:0112106]   ( DOID:0112106 )

Relationships
is a type of: X-linked chondrodysplasia punctata 2