APUG is a novel congenital disorder so far reported only in a single consanguineous Saudi family. It is a syndromic form of arthrogryposis affecting both distal and proximal joints. The disorder is characterized by avascular necrosis of capital femoral epiphysis i.e. Perthes disease, upward gaze palsy associated with exotropia, atopy manifesting as severe bronchial asthma, pyloric stenosis, congenital heart disease and subtle facial dysmorphism.
It is interesting to note that thus far, all reported cases of APUG have been female even though one of its features, pyloric stenosis, has generally shown a higher association with males. Management of this disorder involves a multistep approach to deal with each of the symptoms. This includes physiotherapy to relieve joint contractures and surgery to correct pyloric stenosis.