Category: K

Kufs disease is a late-onset variant of the neuronal ceroid lipofuscinoses (NCLs). There are four types of NCL, all of which have begun to be referred to as Batten disease. NCLs are inherited neurodegenerative storage disorders involving the accumulation of excessive abnormal lipo-pigments with fingerprint or granular ultrastructural patterns in the neurons and other cells…

Klippel-Trenaunay-Weber syndrome (KTWS) is an uncommon disorder in which asymmetrical enlargement (hypertrophy) of a limb or limbs and hemangiomas (blood vessel malformations) are the most consistent features. Hemangiomas are found most frequently on the skin but may occur in several other areas. A uncommon condition typically impacting a limb, where a significant abnormality in blood…

Klippel-Trenaunay syndrome (KTS) is a congenital, vascular condition that usually affects the extremities. It also is known as angio-osteohypertrophy, nevus varicousus osteo- hypertrophicus syndrome, hemangiectasia hypertrophicans, and nevus verucosus hypertrophicans (Health Encyclopedia, 2001) and is commonly confused with several other similar conditions, including Klippel-Trenaunay- Weber syndrome, and Sturge-Weber syndrome. The most common characteristics of KTS…

Kienbock disease is the slow, progressive osteochondrosis (degeneration followed by recalcification) of the carpal lunate bone in the wrist. The disease causes pain, inflammation, and stiffness. It also is known as lunatomalacia, aseptic necrosis, osteochondrotitis, traumatic osteoporosis, and osteitis, and it can be classified as a type of cumulative trauma disorder. Kienbock disease usually occurs…

Kennedy disease is one of a group of disorders referred to as spinal muscular atrophies. Kennedy disease is a progressive spinobulbar muscular atrophy (SBMA) that presents in individuals between 15 and 60 years of age. Kennedy disease involves instability of the trinucleotide repeats similar to fragile X, Huntington disease, Machado-Joseph disease, and myotonic dystrophy. In…

Kearns-Sayre syndrome (KSS) is a multisystem genetic disorder caused by defects of mitochondrial DNA. KSS is one of the more frequent forms of mitochondrial respiratory chain deficiency. Most if not all cases have been sporadic. Clinical manifestations are highly variable, multisystem defects that involve abnormality of the central nervous system (CNS), skeletal muscle, heart, and…

Kawasaki syndrome, also known as mucocutaneous lymph node syndrome, is a form of acute vasculitis that occurs almost exclusively in young children. In fact, approximately 80% of cases occur in children under 5 years old. This syndrome is extremely rare in children older than age 10. Etiology of the illness is unknown, but many experts…

Kaiser-Fleischer ring (KFR) is an abnormality of the cornea, which is the transparent covering of the pupil and iris. KFR consists of a circular deposit of golden brown, copper- containing material of the outer edge of the cornea.  

Keratosis follicularis spinulosa decalvans (KFSD) is a form of ichthyosis characterized by hardening of the skin around the hair follicles eventually leading to baldness (alopecia) and scarring. During infancy, keratosis begins on the face and moves to the extremities and trunk by childhood. Around puberty, alopecia of the scalp and eyebrows develops. KFSD is a…

Seminiferous tubule dysgenesis; the most common cause of male hypogonadism. The condition results from an extra X chromosome to give an XXY genotype. The phenotypes of this genotype are small testes, gynocomastia (partial breast development), azoospemia (poor or no sperm production), and elevated levels of gonadotropins.