Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia (CDP-PBHM)

Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia, also known as x-linked dominant chondrodysplasia, chassaing-lacombe type, is related to hydrocephalus, congenital, 1 and brachydactyly. An important gene associated with Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia is HDAC6 (Histone Deacetylase 6), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Bardet-Biedl syndrome. Affiliated tissues include bone, and related phenotypes are frontal bossing and hydrocephalus