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
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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 Multiple pterygium syndrome Escobar type. This website is maintained by the National Library of Medicine.
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