Cranioectodermal dysplasia

Disease Export to PDF
Name:
Cranioectodermal dysplasia
Description:
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).
ORPHAcode:
1515
Synonyms:
CED
Sensenbrenner syndrome
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14