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Items: 3

1.

Myxofibrosarcoma

A rare soft tissue sarcoma characterized by a malignant, fibroblastic lesion with variably myxoid stroma, pleomorphism, and a distinctively curvilinear vascular pattern. The majority of tumors arise in the limbs including the limb girdles, more often in dermal/subcutaneous tissues than in the underlying fascia and skeletal muscle, and usually present as a slowly growing, painless mass. Depth of the lesion and tumor grade do not influence the high rate of local recurrence, while the percentage of metastasis and tumor-associated mortality are much higher in deep-seated and high-grade neoplasms. [from ORDO]

MedGen UID:
811359
Concept ID:
C3714524
Neoplastic Process
2.

Rectal Adenocarcinoma

An adenocarcinoma arising from the rectum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectal adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma. [from NCI]

MedGen UID:
56214
Concept ID:
C0149978
Neoplastic Process
3.

Marfan syndrome

Marfan syndrome, a systemic disorder of connective tissue with a high degree of clinical variability, comprises a broad phenotypic continuum ranging from mild (features of Marfan syndrome in one or a few systems) to severe and rapidly progressive neonatal multiorgan disease. Cardinal manifestations involve the ocular, skeletal, and cardiovascular systems. Ocular findings include myopia (the most common ocular feature); ectopia lentis (seen in approximately 60% of affected individuals); and an increased risk for retinal detachment, glaucoma, and early cataracts. Skeletal system manifestations include bone overgrowth and joint laxity; disproportionately long extremities for the size of the trunk (dolichostenomelia); overgrowth of the ribs that can push the sternum in (pectus excavatum) or out (pectus carinatum); and scoliosis that ranges from mild to severe and progressive. The major morbidity and early mortality in the Marfan syndrome relate to the cardiovascular system and include dilatation of the aorta at the level of the sinuses of Valsalva (predisposing to aortic tear and rupture), mitral valve prolapse with or without regurgitation, tricuspid valve prolapse, and enlargement of the proximal pulmonary artery. Severe and prolonged regurgitation of the mitral and/or aortic valve can predispose to left ventricular dysfunction and occasionally heart failure. With proper management, the life expectancy of someone with Marfan syndrome approximates that of the general population. [from GeneReviews]

MedGen UID:
44287
Concept ID:
C0024796
Disease or Syndrome
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