Keutel syndrome

Keutel syndrome 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.

It was first identified in 1972.



It is associated with abnormalities in the gene coding for matrix gla protein.