National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Lethal congenital contracture syndrome 11


Other Names:
Lethal congenital contracture arthrogryposis-11; LCCS11
This disease is grouped under:
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.[1][2] 

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.[1][2] 

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.[3]
Last updated: 2/10/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] 		0000278
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Decreased fetal movement
Less than 10 fetal movements in 12 hours
0001558
Polyhydramnios
High levels of amniotic fluid
0001561
Pulmonary hypoplasia
Small lung
Underdeveloped lung
[ more ] 		0002089
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 

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  1. Maluenda J & cols. Mutations in GLDN, encoding gliomedin, a critical component of the nodes of Ranvier, are responsible for lethal arthrogryposis. Am. J. Hum. Genet. 2016; 99:928-933. https://www.ncbi.nlm.nih.gov/pubmed/27616481.
  2. Lethal congenital contracture syndrome 11. OMIM. 2016; http://www.omim.org/entry/617194.
  3. Eshed Y, Feinberg K, Poliak S, Sabanay H, Sarig-Nadir O, Spiegel I, Bermingham JR Jr & Peles E. Gliomedin mediates Schwann cell-axon interaction and the molecular assembly of the nodes of Ranvier. Neuron. 2005; 47:215-229. http://www.cell.com/neuron/pdf/S0896-6273(05)00532-5.pdf.