X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Definition
A rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.
Also known as chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, X-linked dominant, X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome — per MONDO