Keutel syndrome

Keutel syndrome
OMIM	245150
DiseasesDB	33698

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

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.

Keutel syndrome has an autosomal recessive pattern of inheritance.

References

Template:Phakomatoses and other congenital malformations not elsewhere classified