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Cranioectodermal dysplasia

Disease 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).

ORPHA:1515

Classification level: Disorder
  • Synonym(s):
    • CED
    • Sensenbrenner syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.5
  • OMIM: 218330  613610  614099  614378  617102
  • UMLS: C0432235
  • MeSH: -
  • GARD: 359
  • MedDRA: -

Detailed information

Professionals

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.