Dyssegmental dysplasia glaucoma
Overview
A condition characterized by dwarfism, hydrocephalus, facial abnormalities and a narrow chest. The condition results in death during or soon after birth and is a more severe form of Rolland-Debuquois syndrome.
Symptoms
* Hydrocephalus * Underdeveloped cerebellum * Impaired enochondrial ossification * Occipital exencephalocele * Polymicrogyria * Hydrocephalus * Cleft palate * Underdeveloped orbitals * Flat face * Narrow chest * Reduced joint mobility * Short trunk * Narrow thorax * Severe shortening of tubular bones * Glaucoma
Prognosis
Prognosis of Silverman-Handmaker syndrome: stillborn or survive for only a few hours
Resources
Dyssegmental dysplasia glaucoma: Another name for Silverman-Handmaker syndrome