Cranioectodermal dysplasia

Orpha code: 1515OMIM code: 614378

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).

Disease data
Classification

Malformation syndrome

Synonyms
CED
CED
Sensenbrenner syndrome
Zespół Sensenbrenner
ORPHA code
1515
OMIM code
614378
ICD10 code
Q87.5
ICD11 code
LD27.0Y

No additional description.

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