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Al-Awadi-Raas-Rothschild Syndrome/Fuhrmann Syndrome 

Al-Awadi-Raas-Rothschild Syndrome/Fuhrmann Syndrome
Chapter:
Al-Awadi-Raas-Rothschild Syndrome/Fuhrmann Syndrome
Author(s):

Geoff Woods

DOI:
10.1093/med/9780199934522.003.0043
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date: 06 August 2020

This chapter describes an autosomal recessive condition affecting skeletal and uterine development. The condition is characterised by severe longitudinal bone deficiencies involving the legs more so than arms, anomalies of hand and feet patterning, an absent uterus in affected females, and normal intelligence. It is very rare and was described in a handful of case reports by Al-Awadi et al, Richieri-Costa, Raas-Rothschild et al, Farag et al, Schinzel and Chitayat. Additional cases reported by Camera et al. and Lurie and Wulfsberg in 1993 lead these latter authors to suggest that Al-Awadi syndrome, Raas-Rothschild syndrome and Schinzel phocomelia syndrome were different names for the same disorder. Fuhrmann syndrome was later added to this list. Finally, Mendelian Inheritance in Man sought to provide a more descriptive and encompassing name with “Limb/Pelvis-hypoplasia syndrome”(OMIM 276820, although they also list the allelic disorder “Fibular apalasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly” OMIM 228930). The finding of bi-allelic mutations in the gene WNT7A confirmed the common pathogenesis of these allelic syndromes. Vertebrate studies of limb and uterine development had shown the importance of WNT7A, and the human deficiency syndromes described here are in accord with these findings, especially as the WNT7A protein is highly conserved among mammals.

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