Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome (BWS) is a congenital overgrowth syndrome, which can affect all systems of the body. In the great majority of cases it appears to be an isolated event with no known relatives, but there is some evidence that the condition can be inherited.
| Wilms' tumor Wilms' tumor is a rare type of kidney cancer that affects children. It causes a tumor on one or both kidneys. Having certain genetic conditions or birth defects can increase the risk of developing Wilms' tumor. Children who are at risk should be screened for Wilms' tumor every three months until they turn eight. Possible signs of a kidney tumor include a lump in the abdomen and blood in the urine. The tumor is usually diagnosed and removed in surgery. Other treatments include chemotherapy, radiation, biologic therapy or a combination. Biologic therapy, or immunotherapy, boosts your body's own ability to fight cancer. Most children with Wilms' tumor can be cured. National Cancer Institute This is one family's account of having a Wilms Tumor diagnosis. Please click the link for an on page report of their Journey. Some browsers require permission to open active content, you must approve this to see the text. One Family's Journey With Wilms Hepatoblastoma Hepatoblastoma is a rare tumor (an abnormal tissue growth) that originates in cells in the liver. It is the most common cancerous (malignant) liver tumor in early childhood. Most hepatoblastoma tumors begin in the right lobe of the liver. Hepatoblastoma cancer cells also can spread (metastasize) to other areas of the body. The most common site of metastasis is the lungs. Hepatoblastoma primarily affects children from infancy to about 5 years of age. Most cases appear during the first 18 months of life. Hepatoblastoma affects white children more frequently than black children, and is more common in boys than girls up to about age 5, when the gender difference disappears. Although the exact cause of liver cancer is unknown, there are a number of genetic conditions that are associated with an increased risk for developing hepatoblastoma. They include:
Klippel-Trenaunay Syndrome The K-T syndrome is a rare congenital malformation that is usually characterized by a triad of symptoms: 1.)Port-wine stain or "birthmark" (cutaneous capillary malformations), 2.)Soft tissue and bony hypertrophy (excessive growth of the soft tissue and /or bones), 3.)Venous malformations & lymphatic abnormalities. K-T usually is limited to one limb, but may occur in multiple limbs and/or head or trunk area. Internal organs may also be involved. Each case of K-T is unique and may exhibit the above characteristics to differing degrees. http://www.k-t.org/ Cutis Marmorata Telangiectatica Congenita (CMTC) A rare condition that mainly affects the blood vessels of the skin. It is usually seen at birth or soon after. CMTC looks like a purple, marble-like pattern on the surface of the skin. This pattern is similar to the fishnet-like blotches seen in young infants when they are cold. In children with CMTC, the marbling is more severe and always visible. The marble-like skin pattern may be limited to a certain part of the body (localized CMTC) and there may be slight depressions in the skin. CMTC also may be distributed over large areas of the body (generalized CMTC) CMTC can affect the arms, trunk and face, but usually occurs on the legs. The skin pattern may become more visible with vigorous movement, crying, or with exposure to the cold. Related abnormalities are found in up to 50% of patients with CMTC. These abnormalities include vascular conditions such as port wine stains (red-colored patches that are present at birth) and hemangiomas (non-cancerous, blood-filled growths that appear in the first weeks of life). Other associated conditions include:
Proteus syndrome Proteus Syndrome is a condition which involves atypical growth of the bones, skin, head and a variety of other symptoms. This condition was first identified by Michael Cohen Jr., DMD, PhD., in 1979. In 1983 a German Pediatrician, Hans-Rudolf Wiedemann, named it proteus syndrome, for the Greek God Proteus “the polymorphous” presumably because of the variable manifestation in the four unrelated boys first identified with the syndrome. At this time there are over 120 documented cases worldwide. However, not all cases of proteus syndrome are documented, therefore it is unknown how many individuals have this syndrome. The syndrome became widely known when it was determined that Joseph Merrick(the patient depicted in the play and movie "The Elephant Man") had severe Proteus syndrome rather than neurofibromatosis as was initially suggested. Other associated conditions include:
Macrocephaly-Capillary Malformation Macrocephaly-capillary malformation (M-CM) is a multiple malformation syndrome causing abnormal body and head overgrowth and cutaneous, vascular, neurologic, and limb abnormalities. The disorder is assumed to have a genetic basis, but the precise genetic cause for M-CM is unknown and diagnosis is currently based on clinical observations. Though not every patient has all features, commonly found signs include macrocephaly, congenital macrosomia, extensive cutaneous capillary malformation (naevus flammeus or port-wine stain type birthmark over much of the body; a capillary malformation of the upper lip or philtrum is seen in many patients with this condition), body asymmetry (also called hemihyperplasia or hemihypertrophy), polydactyly or syndactyly of the hands and feet, lax joints, doughy skin, variable developmental delay and other neurologic problems such as seizures and low muscle tone. | 
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