Beckwith-Wiedemann Syndrome

"This page is for families and individuals who are looking for information on Beckwith-Wiedemann Syndrome."

This page is dedicated to my daughter Diana.

Diana Pilar

I am happy to report that as of February 2005, Diana is a happy
five-year-old doing well in her Miami kindergarten class.
She suffers no medical problems but still undergoes occasional
exams to check for the growth of tumors in her liver or kidneys.
Diana participated in some speech therapy but no longer exhibits
profound problems with her slightly over-sized tongue.
Recent photographs of her can be seen at Diana's Photos

Este sitio tambien disponible en Español

Beckwith-Wiedemann Syndrome (BWS) is one of the most common congenital overgrowth syndromes, affecting slightly more than one in 13,700 births. Extensive controversy surrounds the mode of transmission of this condition; an autosomal dominant inheritance pattern with variable penetrance has been favored, although recent evidence suggests a multifactorial inheritance. BWS is a complex of congenital findings including macroglossia, omphalocele, gigantism, advanced bone age, visceromegaly, miocrocephaly, renal medullary dysplasia, facial nevi, and distinctive ear creases.

Patients with BWS have a well-recognized increased risk for development of neoplasias, with reports of 5-10% of patients developing embryonal tumors. Approximately 40% of neoplasias are associated with hemihypertrophy. Tumors associated with BWS include Wilms' tumor, adrenocortical carcinoma, hepatoblastoma, gonadoblastoma, rhabdomyosarcoma, and neuroblastoma. Thus, a correct diagnosis of BWS insures appropriate screening for malignancy in affected patients and may stimulate screening of family members for possible involvement.

Over 500 cases of BWS have been reported since the first descriptions with almost all cases being diagnosed by physical examination in the postnatal period. Given the increased risk of birth trauma associated with gigantism or omphalocele and the potentially fatal sequence of severe hypoglycemia and congestive heart failure, in utero diagnosis is important.

The most common in utero findings of BWS are macrosomia, omphalocele, visceromegaly, and polyhydramnios. Macroglossia was identified in five of 11 published cases and has been reported as a manifestation in 82% to 98% of cases. Although macroglossia is the most common clinical finding, this characteristic is not limited to this syndrome but may be seen with lymphangioma, hemangioma, rhabdomyosarcoma, and hypothyroidism.

Prenatal diagnosis of macrosomia and omphalocele in BWS ensures that a proper mode of delivery can be chosen for the affected fetus. In cases of omphalocele, many practitioners have chosen cesarean delivery to facilitate coordination of efforts between pediatric surgery and neonatology in early abdominal wall repair and to avoid possible trauma to extracorporeal fetal organs.

As 60% of infants with BWS can exhibit profound hypoglycemia, aggressive monitoring and treatment of hypoglycemia and hypocalcemia are essential to prevent seizures and corticosteroids may be necessary to treat resistant hypoglycemia.

Beckwith-Weidemann Syndrome

Beckwith-Wiedemann Support Network (BWSN)
3206 Braeburn Circle
Ann Arbor, MI 48108
Phone: (800) 837-2976 (parents only) or (734) 973-0263
Contact: Susan Fettes
Fax: (734) 973-9721
    Also serves families with Simpson-Golabi-Behmel syndrome

Also See:

To locate a genetic counselor or clinical geneticist in your area:

Links to related sites:

Wilms Tumor
Texas Pediatric Surgical Associates
Virtual Hospital
Diagnosis Match - Bulletin Board
Medical and Scientific Information Online, Inc., an Indiana not for profit corporation - Abdominal Defects
Beckwith-Wiedemann Syndrome Prenatal Diagnosis
Special Child Magazine - Bulletin Board
Special Child Magazine - Bulletin Board
Special Child Magazine - Bulletin Board
Beckwith-Wiedemann syndrome
Wilms tumor
Kidney Anatomy - Wilms Tumor
Beckwith-Weidemann Syndrome (BWS) Support Group

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Page last updated: 09/28/05

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