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Sensenbrenner syndrome

MIM.218330

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.

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