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.

Also, despite largely abnormal calcification of regions including the larynx, tracheobronchial tree, nose, pinna (anatomy), and epiglottis, patients exhibit normal serum calcium and phosphate levels.

Initial diagnosis lends itself to facial abnormalities including sloping forehead, maxillary hypoplasia, nasal bridge depression, wide mouth, dental malocclusion, and receding chin.

Commonly, diffuse cartilage calcification and brachytelephalangism are identified by X-radiation (X-ray), while peripheral pulmonary arterial stenosis, hearing loss, dysmorphic facies, and mental retardation are confirmed with confidence by the aforementioned diagnostic techniques.

[9] Radiography also reveals several skeletal anomalies including facial hypoplasia resulting in underdevelopment of the nasal bridge with noticeably diminished alae nasi.

[10] Abnormal diffuse cartilaginous ossification is typically most pronounced in the auricles and cartilage of the trachea and larynx, while peripheral pulmonary stenosis is frequently common in KS.

[16] Recent evidence suggests MGP is a vitamin K dependent protein synthesized by chondrocytes and vascular smooth muscle cells, where it potentiates the inhibition of cartilaginous and arterial calcification.