Glossary

Author: Glossary

  • Kearns-sayre syndrome

    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

    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

    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.  

  • Juvenile cerebromacular degeneration

    Juvenile cerebromacular degeneration is also called as Tay-Sachs disease (TSD). TSD is a rare, progressive, neurodegenerative, genetic disorder in which harmful quantities of a fatty substance called ganglioside GM2 accumulate in the nerve cells in the brain (McKusick, 2000; National Institute of Neurological Disorders and Stroke [NINDS], 2000; National Organization for Rare Disorders [NORDJ, 2000).…

  • Juberg-Marsidi syndrome

    Juberg-Marsidi syndrome (JMS) is a rare, multisystem, congenital condition characterized by pronounced mental retardation, stunted growth, sensory deficiencies, and microgenitalism. JMS is X-linked recessive; all affected cases have been males born to phenotypically normal mothers.  

  • Joubert syndrome

    Joubert syndrome is an autosomal-recessive disorder characterized by brain stem and cerebral malformation, as well as central nervous system deficits and motor difficulties. Children affected with this syndrome exhibit developmental delay, apnea during infancy, limited fine and gross motor coordination, and abnormal eye movement. Some neonates may have tachypnea, abnormal breathing similar to the panting…

  • Johanson-blizzard syndrome

    Johanson-Blizzard syndrome is a disorder characterized by a thin, beak-like nose due to abnormalities in nostril development; coarse, thin scalp hair that grows in a distinctive upsweeping pattern; and abnormal development and functioning of the pancreas that results in a failure to grow and gain weight as expected. Approximately 60% of individuals with the disorder…

  • Job syndrome

    The National Organization for Rare Disorders, Inc. (NORD, 1999) states that Job syndrome (JS) is a congenital immunodeficiency disorder that is characterized by recurrent bacterial (staphylococcal) infections that focus primarily on the skin. JS is a very rare disorder that affects an equal number of males and females. Symptoms of JS are present at birth…

  • Ito’s hypomelanosis

    Hypomelanosis of Ito (HMI) is a rare skin condition characterized by hypopigmentation (unusual lack of skin color) caused by lack of melanin. Hypopigmentation may appear on any area of the body except the palms of the hands, the soles of the feet, and the scalp. Numerous other congenital defects may be present including neurological, skeletal,…

  • Isovaleric acidemia

    Isovaleric acidemia is characterized by a deficiency of the enzyme isovaleryl CoA dehydrogenase. This enzyme is essential to normal metabolism of the amino acid lysine. Clinical manifestations of this disorder are caused by accumulations of large amounts of isovaleric acid and its metabolites in tissue and body fluids. A rare autosomal recessive metabolic disease affecting…