Multiple pterygium syndrome Escobar type
Other Names for this Disease
- Autosomal recessive multiple pterygium syndrome
- Autosomal recessive non-lethal multiple pterygium syndrome
- Bonnemann-Meinecke syndrome
- Escobar syndrome
- Escobar variant multiple pterygium syndrome
contractures. Symptoms of Escobar syndrome are present from birth. It can be caused by mutations in the CHRNG gene. It tends to be inherited in an autosomal recessive fashion.Multiple pterygium syndrome, Escobar type is characterized by webbing of the neck, elbows, and/or knees, and joint
Last updated: 1/29/2010
- Multiple pterygium syndrome, Escobar variant. Online Mendelian Inheritance in Man. 2008; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=265000. Accessed 8/13/2009.
- Enns GM. NORD Guide to Rare Disorders: 'Multiple Pterygium Syndrome'. Philadelphia, PA: Lippincott Williams & Wilkins; 2003;
- Morgan NV et al. Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. American Journal of Human Genetics. 2006;
- Genetics Home Reference (GHR) contains information on the P2RY12 gene and its related conditions. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Multiple pterygium syndrome Escobar type. Click on the link to view a sample search on this topic.