Dyssegmental dysplasia- Rolland-Desbuquois type
Overview
A condition characterized by dwarfism, hydrocephalus, facial abnormalities and a narrow chest. Survival is possible past infancy. The condition is a less severe form of Silverman-Handmaker syndrome which is lethal.
Symptoms
* Neonatal distress * Short limbs * Dwarfism * Hydrocephalus * Cleft palate * Underdeveloped eye orbits * Flat face * Narrow chest * Reduced joint mobility
Prognosis
Prognosis of Rolland-Desbuquois syndrome: lethal disorder though many survive past infancy
Resources
Dyssegmental dysplasia, Rolland-Desbuquois type: Another name for Rolland-Desbuquois syndrome