Cranioectodermal dysplasia
Cranioectodermal dysplasia
Definition
Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).
Also known as CED, cranioectodermal dysplasia, Sensenbrenner syndrome — per MONDO