Multiple pterygium syndrome Escobar type
Other Names for this Disease
- Escobar syndrome
- Multiple pterygium syndrome
- Multiple pterygium syndrome nonlethal type
- Pterygium colli syndrome
- Pterygium syndrome
Your QuestionI would like to learn more about multiple pterygium syndrome, Escobar type. How is this condition treated? What are the risks and benefits of back surgery?
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Questions on this page
- What is Multiple pterygium syndrome, Escobar type?
- What are the symptoms of Multiple pterygium syndrome, Escobar type?
- What causes multiple pterygium syndrome, Escobar type?
- How is multiple pterygium syndrome, Escobar type diagnosed?
- How is multiple pterygium syndrome, Escobar type treated?
- How can I learn more about my childs surgical options?
- How can I learn about clinical and research genetic testing for Escobar syndrome?
- How can I find a genetics professional in my area?
People with Escobar syndrome may have in-curving of the little finger, joined fingers, and rocker-bottom feet. They may also have kyphoscoliosis and other spine defects, such as fusion of the spine. Abnormal ossicles (the three small bones in the ear) may lead to conductive hearing loss. Other skeletal anomalies include rib fusions, radial head and hip dislocations, talipes calcaneovalgus (the foot points inwards and down) or club foot, and missing or underdeveloped kneecap.
Escobar syndrome is usually inherited in an autosomal-recessive fashion.
Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.
The following online resources can help you find a genetics professional in your community:
- The National Society for Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- 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;