Pterygium Syndrome, Multiple

Pterygium Syndrome, Multiple

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Pterygium Syndrome, Multiple is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Escobar Syndrome
  • multiple pterygium syndrome
  • pterygium colli syndrome
  • pterygium universale

Disorder Subdivisions

  • None

General Discussion

Multiple pterygium syndrome is a very rare genetic disorder characterized by minor facial anomalies, short stature, vertebral defects, multiple joints in a fixed position (contractures) and webbing (pterygia) of the neck, inside bend of the elbows, back of the knees, armpits and fingers. Multiple pterygium syndrome usually follows autosomal recessive inheritance but can also follow autosomal dominant inheritance.

Symptoms

Multiple pterygium syndrome is a very rare disorder characterized by permanently bent fingers (camptodactyly), short stature, rocker-bottom or club feet, joints that are bent in a fixed position (contractures), union or webbing of the skin between the fingers (syndactyly), and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits. The webbing of skin and contractures of the joints that are found in this disorder may restrict movement.



Characteristic facial features can include a small jaw (micrognathia), a long vertical groove in the middle of the upper lip (philtrum), down-slanting eyes, a vertical fold of skin over the inner corner of the eye (epicanthal folds), drooping eyelids, low-set ears, cleft palate and down-turned corners of the mouth.



Backward and lateral curvature of the spine (kyphoscoliosis) and spinal fusion abnormalities occur often in multiple pterygium syndrome. Other skeletal anomalies include rib fusions, hip dislocation, abnormal ear bones and absent or malformed kneecaps.



Males may have undescended testes and an abnormally small penis. Females may have underdeveloped or missing labia majora.

Causes

Multiple pterygium syndrome usually follows autosomal recessive inheritance but can also follow autosomal dominant inheritance.



Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.



Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.



All individuals carry 4-5 abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.



Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.

Affected Populations

Multiple pterygium syndrome is a very rare genetic disorder that affects males and females equally. There have been approximately fifty cases of this disorder reported in the medical literature. Multiple pterygium syndrome has been found in Germany, France and England.

Standard Therapies

Therapy is supportive and depends on the severity of the webbing and spinal abnormalities. Orthopedic specialists should be consulted once a diagnosis is made because scoliosis develops before age five in most patients. Affected individuals have an increased risk for developing pneumonia due to a small rib cage so respiratory infections should be treated promptly. Patients with multiple pterygium syndrome may benefit from plastic surgery in the areas of webbing. This must be done with extreme caution as there may be major nerves and blood vessels in the area that are too short to allow for full extension of the limbs. Plastic surgery may also be performed to improve fused fingers and correct the cleft palate when present. Physical therapy can be of benefit to help in preventing the joints from becoming fixed.



Drooping eyelids can interfere with vision so an ophthalmology specialist should be consulted. Hearing testing should be done because of an increased risk for conductive hearing loss.



Genetic counseling may be of benefit for patients and their families.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.



For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

TEXTBOOKS

Enns GM. Multiple Pterygium Syndrome. In: The NORD Guide to Rare Disorders, Philadelphia: Lippincott, Williams and Wilkins, 2003:241.



JOURNAL ARTICLES

Gorlin RJ, Cohen MM, Levin LS. Multiple Pterygium. In: Syndromes of the head and neck, 3rd ed. New York: Oxford University Press, 1990:626-629.



Ramer JC, Ladda RL, Demuth WW. Multiple Pterygium Syndrome: an overview. ADJC 1988:142:794-798.



Chen H, Chang C-H, Misra RP, et al. Multiple Pterygium Syndrome. Am J Med Genet 1980;7:91-102.



Escobar V, Bixler D, Gleiser S, et al. Multiple Pterygium Syndrome. Am J Dis Child 1978:132:609-611.



FROM THE INTERNET

McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore, MD: The Johns Hopkins University; Entry No. 265000; Last Update: 3/17/04.

Resources

NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

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For a Complete Report

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