Keutel Syndrome is a rare hereditary disorder with diffuse calcification of cartilage.
Chromosome: 12p12.3
Gene: MGP
Gene product: matrix Gla protein
Inheritance: autosomal recessive
Common clinical findings:
(1) diffuse calcification or ossification of cartilage
(2) brachytelephalangy (shortening and broadening of the first to fourth distal phalanges with sparing of the fifth phalange)
(3) multiple peripheral pulmonary stenoses
(4) sensorineural hearing loss
(5) dysmorphic facial features (sloping forehead, midface hypoplasia, depressed nasal bridge, hypoplastic alae nasi, receding chin)
(6) intellectual disability from borderline to mild delay
(7) short stature
Variable findings:
(1) permanent skin rash
(2) papillary microcarcinoma of the thyroid
(3) asthma
(4) bullous emphysema
(5) hypertension
(6) infertility
(7) recurrent pneumonia
(8) cardiovascular malformations
