Sensenbrenner syndrome
MIM.218330
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.
Synopsis
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)
References
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