Al-Awadi/Raas-Rothschild (AARR) Syndrome is a rare hereditary disorder associated with multiple malformations.

Synonym: limb/pelvis hypoplasia/aplasia syndrome


Chromosome: 3p25.1

Gene affected: WNT7A (induces expression of the transcription factor Lmx1 in the dorsal mesenchyme of the developing limb)


In AARR syndrome there is a complete loss of WNT7A function, while in Fuhrmann syndrome there is a partial loss.


Inheritance: autosomal recessive


Al-Awadi/Raas-Rothschild (AARR) Syndrome is associated with:

(1) phocomelia with limb shortening or absence

(2) pelvis aplasia or hypoplasia

(3) renal malformations (horseshoe, other)

(4) genital malformations (uterine in female, cryptorchidism and/or macrophallus in male)

(5) facial malformations (cleft palate, retro-micrognathia, hypertelorism)


The syndrome is not associated with a skull deficiency.

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