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Sensenbrenner syndrome


Tuesday 27 May 2008

Cranioectodermal dysplasia (CED) or Sensenbrenner syndrome (MIM.218330) is an autosomal recessive disorder characterized by dolichocephaly, rhizomelic dwarfism, dental and nail dysplasia, and progressive tubulo-interstitial nephritis (TIN) leading to end-stage renal failure.

The coexistence of a chronic tubulo-interstitial renal disease with lesions associated to malformations of the hepatic ductal plate (hepatorenal dysplasia) may indicate that CED could be a new member of the group of hepatorenal dysplastic syndromes (congenital hepatorenal fibrocystic syndromes). However, it is not a renal dysplasia.


- dolichocephaly
- rhizomelic dwarfism
- dental and nail dysplasia
- progressive tubulo-interstitial nephritis (TIN)
- end-stage renal failure.
- cranio-ectodermal dysplasia
- tubulo-interstitial nephropathy
- liver cystic disease
- congenital hepatic fibrosis
- ductal plate malformation (DPM)


- Zaffanello M, Diomedi-Camassei F, Melzi ML, Torre G, Callea F, Emma F. Sensenbrenner syndrome: a new member of the hepatorenal fibrocystic family.Am J Med Genet A. 2006 Nov 1;140(21):2336-40. PMID: 17022080