Keutel syndrome

Keutel syndrome is a rare inherited disorder passed on in an autosomal recessive pattern, meaning a child is affected only after receiving a changed copy of the gene from each parent, who are themselves unaffected carriers. The gene involved codes for matrix gla protein, known as MGP. The condition is marked by abnormal calcification of cartilage in places such as the larynx, windpipe and bronchial tree, nose, outer ear and epiglottis, even though blood calcium and phosphate levels stay normal. Other features include underdevelopment of the middle of the face, narrowing of the pulmonary arteries outside the lungs, hearing loss, unusually short fingertip bones and mild intellectual disability. It was first recognised in 1972 and shares several signs with chondrodysplasia punctata, though the pulmonary narrowing is distinctive to Keutel syndrome. No chromosomal abnormalities have been reported in affected people.