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Pterygium Syndrome, Multiple

Synonyms of Pterygium Syndrome, Multiple

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

Disorder Subdivisions

  • No subdivisions found.

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.

Related Disorders

Symptoms of the following disorders can be similar to those of multiple pterygium syndrome. Comparisons may be useful for a differential diagnosis:

Popliteal pterygium syndrome is a disorder characterized by cleft lip and/or cleft palate, lower lip pits, webbed skin (pterygium) on the backs of both legs (popliteal) and between the legs (intercrural), malformation and/or underdevelopment of the genitals, webbing or fusion of the fingers and/or toes (syndactyly), adhesion of upper and lower jaw and adhesion of upper and lower eyelids. A cone-shaped fold of skin on the nail of the big toe is a very distinctive finding in this condition. Popliteal pterygium syndrome is at the severe end of the spectrum of disorders caused by abnormalities in the interferon regulatory factor (IRF6) gene. (For more information about this disorder, choose "IRF6-related disorders" as your search term in the Rare Disease Database.)

Lethal multiple pterygium syndrome is characterized by stillbirth or death of an infant shortly after birth. Affected infants usually have underdeveloped lungs, diaphragmatic hernia and abnormalities of the heart, kidneys and brain in addition to webbed skin in multiple areas and contractures.

Arthrogryposis multiplex congenita is a disorder that is apparent at birth and characterized by reduced mobility of multiple joints due to rapid growth of fibrous tissue (fibrous ankylosis). The range of motion of the joints of all limbs is limited or fixed. The shoulders are bent inward and internally rotated. The elbows are extended and the wrists and fingers are bent. The hips may be dislocated and are usually slightly bent. The knees are extended and the heel is bent inward at the ankle (clubfoot). (For more information on this disorder, choose "arthrogryposis multiplex congenita" as your search term in the Rare Disease Database.)

Noonan syndrome is a rare genetic disorder characterized by a broad or webbed neck, a low hairline in the back of the head and short stature. Characteristic abnormalities of the head and facial (craniofacial) area may include widely set eyes (ocular hypertelorism), vertical skin folds that may cover the inner corners of the eyes (epicanthal folds), drooping of the upper eyelids (ptosis), a small jaw (micrognathia), a low nasal bridge and low-set, prominent, abnormally rotated ears (pinnae). Distinctive skeletal malformations are abnormalities of the breastbone (sternum), curvature of the spine (kyphosis and/or scoliosis), and outward deviation of the elbows (cubitus valgus). Many infants with Noonan syndrome also have heart defects. In some affected individuals, Noonan syndrome appears to result from spontaneous (sporadic) genetic changes (mutations). In others, the disorder may be transmitted as an autosomal dominant trait. (For more information about this disorder, choose "Noonan" as your search term in the Rare Disease Database).

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

Pterygium Syndrome, Multiple Resources

Organizations:

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.

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

Report last updated: 2008/05/15 00:00:00 GMT+0

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