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Cenani-Lenz Syndrome 

Cenani-Lenz Syndrome
Chapter:
Cenani-Lenz Syndrome
Author(s):

Nina Bögershausen

and Bernd Wollnik

DOI:
10.1093/med/9780199934522.003.0040
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date: 27 February 2021

Cenani-Lenz syndrome (CLS, MIM 212780) is a rare autosomal recessively inherited disorder characterized by severe limb malformations, unusual facial features, and renal abnormalities. It is caused by mutations in the LRP4 gene, which encodes a lipoprotein receptor involved in the regulation of Wnt signaling, a pathway essential for embryonic limb patterning and kidney development. LRP4 mutations in patients with CLS are mainly located within the extracellular domain of the protein and confer a total or partial loss-of-protein function. The diagnosis of CLS is established on clinical findings and can be confirmed by molecular genetic testing of LRP4 in approximately 85% of families. Clinical management focuses on surgical syndactyly release, orthopedic aids, and surveillance of kidney function in patients with a kidney malformation.

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