Tags: Disease.
Keutel syndrome (KS) is a rare autosomal recessive genetic disorder characterized by abnormal diffuse cartilage calcification hypoplasia of the mid-face peripheral pulmonary stenosis hearing loss short distal phalanges (tips) of the fingers and mild mental retardation. Individuals with KS often present with peripheral pulmonary stenosis brachytelephalangism sloping forehead midface hypoplasia and receding chin.