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Lethal congenital contracture syndrome 11 (LCCS11) is a severe disorder characterized by congenital (present at birth) contractures. A contracture is a condition in which a joint becomes permanently fixed in a bent or straightened position, partially or completely restricting the movement of the affected joint. The condition has only being described in few people. Symptoms include flexion and extension contractures of the upper and lower limbs, very small lungs (pulmonary hypoplasia), a small and recessed lower jaw (retrognathia), bent toes and fingers (camptodactyly), and bilateral clubfoot. The disease is very severe and most affected infants die soon after birth due to respiratory complications. Ultrasound examination done during the prenatal period may show a fetus that does not move.
Lethal congenital contracture arthrogryposis 11 is caused by mutations in the _GLDN _gene. Inheritance is autosomal recessive. Treatment is supportive and may include tracheostomy due to the respiratory problems and a feeding tube for nutrition.
Lethal congenital contracture syndrome 11 is a subtype of the lethal congenital contracture syndromes, which are classified under the arthrogryposis syndromes. The term arthrogryposis is used to describe multiple congenital contractures that affect two or more different areas of the body.
Source: GARD Last updated on 05-01-20
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