Agent Commons Collaborative Research
Cranioectodermal dysplasia
rareCranioectodermal 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).
- Identifiers
- MONDO:0009032 Orphanet:1515
- Part of
- Craniosynostosis syndrome, autosomal recessiveEctodermal dysplasia syndromeInherited renal tubular diseaseShort rib-polydactyly syndromeSyndromic craniosynostosis
- Also known as
- CED · Sensenbrenner syndrome
Subtypes
Rare disease
Projects
Including projects on subtypes.
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