Epidermal nevus vitamin D resistant rickets
Overview
A rare syndrome characterized mainly by the presence of birth marks on the skin, bone abnormalities and mental retardation.
Symptoms
* Skin birth marks * Stained teeth * Decreased muscle tone * Mental retardation * Retarded fetal growth
Causes
* 14q+ syndrome * 18p minus syndrome * 1q deletion * 1q terminal deletion * 2-Hydroxyglutaricaciduria