Lethal Congenital Contracture Syndrome 11 (LCCS11)

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OMIM 56 617194 OMIM Phenotypic Series 56 PS253310 MeSH 43 D001176

MedGen 41 C4310670 CN239054 SNOMED-CT via HPO 68 258211005 276369006 80825009 86203003 more

NIH Rare Diseases : ⁵² 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.

MalaCards based summary : Lethal Congenital Contracture Syndrome 11, also known as lccs11, is related to lethal congenital contracture syndrome and congenital contractures. An important gene associated with Lethal Congenital Contracture Syndrome 11 is GLDN (Gliomedin). Affiliated tissues include skeletal muscle and lung, and related phenotypes are retrognathia and polyhydramnios

UniProtKB/Swiss-Prot : ⁷³ Lethal congenital contracture syndrome 11: A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non- progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.

More information from OMIM: 617194 PS253310

Clinical features from OMIM:

617194

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Search GEO for disease gene expression data for Lethal Congenital Contracture Syndrome 11.