Stuve-Wiedemann Syndrome (previously known as Schwartz Jampel syndrome type 2) is a rare autosomal recessive skeletal disorder. Due to consanguineous marriages, it is seen more commonly in the United Arab Emirates.
Some characteristic features of this syndrome include bowing of the long bones (campomelia) with lower limbs affected more than the upper limbs leading to short stature, and permanently flexion contracture of fingers and toes (camptodactyly) with ulnar deviation.
Other features might be seen such as: elbow contractures, talipes valgus, spinal deformities, flared iliac wings, hypoplasia of the lower ilia, micrognathia, hypotonia and osteopenia with increased risk of spontaneous fractures.
Early mortality can be due to developing life-threatening complications including sudden hyperthermia, apnea, aspiration due to feeding problems, and respiratory distress.
The definite diagnosis requires genetic testing.
Treatment needs a multidisciplinary approach involving multiple specialities such as Pediatrics, Ophthalmology, Orthopaedic surgery and physiotherapy.