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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
More Names
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Your Question

I 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?

Our Answer

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What is Multiple pterygium syndrome, Escobar type?

Multiple pterygium syndrome, Escobar type is characterized by webbing of the neck, elbows, and/or knees, and joint contractures.[1] 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.
Last updated: 1/29/2010

What are the symptoms of Multiple pterygium syndrome, Escobar type?

Symptoms of multiple pterygium syndrome, Escobar type vary but may include short stature, vertebral (spine) defects, joint contractures, and webbing of the neck, armpit, elbow, knee, between the legs, and of the fingers and toes.[2] The joint contractures may interfere with walking, making walking more difficult. Other symptoms may include down-slanting eyes, skin fold over the inner corner of the eye, a pointed, receding chin, droopy eye lids, and cleft palate. Males with Escobar syndrome may have undescended testicles at birth, and females may have absent labia majora.[2]

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.[2]

Last updated: 8/13/2009

What causes multiple pterygium syndrome, Escobar type?

Some cases of multiple pterygium syndrome, Escobar type are caused by mutations in the CHRNG gene. There are likely other causes of this syndrome as well which have not yet been identified. As a result, in some cases the cause for the syndrome can not be determined. 

Escobar syndrome is usually inherited in an autosomal-recessive fashion.[3]
Last updated: 1/29/2010

How is multiple pterygium syndrome, Escobar type diagnosed?

Multiple pterygium syndrome, Escobar type is diagnosed based on signs and symptoms in the patient. This syndrome should be considered in patients with webs across different body joints, particularly if additional signs and symptoms are present (e.g., subtle facial feature differences). Because skeletal birth defects (especially spine defects), are relatively common in Escobar syndrome radiographs of the complete skeleton may be helpful in diagnosis.[2] Genetic testing for multiple pterygium syndrome, Escobar type is available on a limited basis. This testing can be done using linkage analysis or by sequencing the coding region for the gene.
Last updated: 1/29/2010

How is multiple pterygium syndrome, Escobar type treated?

There is currently no cure for multiple pterygium syndrome, Escobar type. As a result treatment is aimed at managing the associated symptoms. Orthopedics should be involved for issues arising from scoliosis. Infections should be treated promptly. Contracture releases have been performed with variable outcome. Physical therapy is important to help minimize contractures. When ptosis (droopy eyelids) is present, the patient should be referred to ophthalmology. Patients should also be referred to audiology due to the risk of conductive hearing loss.[2]
Last updated: 8/13/2009

How can I learn more about my childs surgical options?

There is very limited information in the medical literature regarding surgical management of joint contractures, spine defects, and other associated symptoms of Escobar syndrome. We recommend that you speak with your child's healthcare providers and specialists to learn more about his surgical options. 
Last updated: 8/13/2009

How can I learn about clinical and research genetic testing for Escobar syndrome?

GeneTests currently lists laboratories in Germany that are offering clinical genetic testing and research genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Research genetic tests may be used to find disease-causing genes, learn how genes work, or aid in the understanding of a genetic disorder. In many cases test results are not shared with the patient or physician. Talk to your health care provider or a genetic professional to learn more about these testing options.
Last updated: 8/13/2009

How can I find a genetics professional in my area?

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:

Last updated: 1/21/2014

References
  • 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;