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CLOVES syndrome affects people with various symptoms, ranging from mild fatty soft-tissue tumors to vascular malformations encompassing the spine or internal organs. It is a genetic disorder that results from somatic, mosaic gain-of-function mutations of the PIK3CA gene, and belongs to the spectrum of PIK3CA -related overgrowth syndromes (PROS).
PWS occurs because of vascular malformation that may or may not be because of genetic mutations, whereas Klippel-Trénaunay syndrome is a condition in which blood vessels and or lymph vessels do not form properly. [7] PWS and KTS almost have the same symptoms, except PWS patients are seen with both AVMs and AVFs occurring with limb hypertrophy.
It is similar to, though distinct from, the less common Parkes Weber syndrome. The classical triad of Klippel–Trenaunay syndrome consists of: [3] vascular malformations of the capillary, venous and lymphatic vessels; varicosities of unusual distribution, particularly the lateral venous anomaly; and
Some vascular anomalies are congenital, others appear within weeks to years after birth, and others are acquired by trauma or during pregnancy. Inherited vascular anomalies are also described and often present with a number of lesions that increase with age. Vascular anomalies can also be a part of a syndrome. [citation needed]
Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital vascular disorder that usually manifests in affecting the blood vessels of the skin. The condition was first recognized and described in 1922 by Cato van Lohuizen, [2] a Dutch pediatrician whose name was later adopted in the other common name used to describe the condition – Van Lohuizen syndrome.
Lesions lips, patient with hemorrhagic hereditary telangiectasia. Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is a rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain.
Anomalous left coronary artery from the pulmonary artery (ALCAPA, Bland-White-Garland syndrome or White-Garland syndrome) is a rare congenital anomaly occurring in approximately 1 in 300,000 liveborn children.
Persistent fetal vasculature (PFV), also known as persistent fetal vasculature syndrome (PFVS), and until 1997 known primarily as persistent hyperplastic primary vitreous (PHPV), [1] is a rare congenital anomaly which occurs when blood vessels within the developing eye, known as the embryonic hyaloid vasculature network, fail to regress as they normally would in-utero after the eye is fully ...