chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia

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

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.

Signs and symptoms

• Metaphyseal cupping of proximal phalanges
• Rhizomelia
• Mild intellectual disability
• Short stature
• Decreased skull ossification
• Short nose
• Metaphyseal cupping
• Hypoplasia of the calcaneus
• Platyspondyly
• Microphthalmia

Also known as: X-linked dominant chondrodysplasia, Chassaing-Lacombe type; X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome