Al-Awadi/Raas-Rothschild syndrome

Definition:

Al-Awadi/Raas-Rothschild syndrome (AARRS) is a limb malformation disorder that has overlapping phenotype with Fuhrmann syndrome, but more-severe limb truncation is observed. This is due to complete loss of WNT7A function in AARRS whereas impairment is partial in Fuhrmann syndrome.

References:

[1]. C G Woods, et al. Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. Am J Hum Genet. 2006 Aug;79(2):402-8. [Content Brief]

[2]. G Camera, et al. Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance. J Med Genet. 1993 Jan;30(1):65-9. [Content Brief]

[3]. Livia Garavelli, et al. Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation. Am J Med Genet A. 2011 Feb;155A(2):332-6. [Content Brief]

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