Keutel syndrome
Encyclopedia
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
.
Cartilage
Cartilage is a flexible connective tissue found in many areas in the bodies of humans and other animals, including the joints between bones, the rib cage, the ear, the nose, the elbow, the knee, the ankle, the bronchial tubes and the intervertebral discs...
calcification
Calcification
Calcification is the process in which calcium salts build up in soft tissue, causing it to harden. Calcifications may be classified on whether there is mineral balance or not, and the location of the calcification.-Causes:...
, hypoplasia
Hypoplasia
Hypoplasia is underdevelopment or incomplete development of a tissue or organ. Although the term is not always used precisely, it properly refers to an inadequate or below-normal number of cells. Hypoplasia is similar to aplasia, but less severe. It is technically not the opposite of hyperplasia...
of the mid-face
Face
The face is a central sense organ complex, for those animals that have one, normally on the ventral surface of the head, and can, depending on the definition in the human case, include the hair, forehead, eyebrow, eyelashes, eyes, nose, ears, cheeks, mouth, lips, philtrum, temple, teeth, skin, and...
, peripheral pulmonary stenosis, hearing loss, short distal phalanges
Distal phalanges
The distal or terminal phalanges are the terminal limb bones located at the tip of the digits...
(tips) of the fingers and mild mental retardation
Mental retardation
Mental retardation is a generalized disorder appearing before adulthood, characterized by significantly impaired cognitive functioning and deficits in two or more adaptive behaviors...
.
It was first identified in 1972.
Matrix gla protein
Matrix gla protein is a protein found in numerous body tissues that requires vitamin K for its optimum function. It is present in bone , as well as in heart, kidney and lung...
.