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.
