Disease – Page 113 – CheckOrphan

Koone Rizzo Elias syndrome

Koone-Rizzo-Elias syndrome: A rare congenital disorder characterized by mental retardation, spasticity and dry, scaly skin.

Kousseff Nichols syndrome

Kousseff-Nichols syndrome: A very rare syndrome characterized mainly by muscle problems, a high body temperature and various other physical abnormalities.

Kowarski syndrome

Kowarski syndrome: A condition resulting from the presence of ineffective growth hormone.

Kozlowski Brown Hardwick syndrome

Kozlowski-Brown-Hardwick syndrome: A very rare syndrome characterized mainly by various skeletal anomalies, unusual facial appearance, eye abnormalities and communicating hydrocephaly.

Kozlowski Celermajer Tink syndrome

Kozlowski Ouvrier syndrome (medical condition): A very rare syndrome characterized mainly by abnormal brain development and bone growth abnormalities. Kozlowski Ouvrier syndrome: Another name for Bone dysplasia - corpus callosum agenesis (or close medical condition association). Bone dysplasia - corpus callosum agenesis: A very rare syndrome characterized mainly by abnormal brain development and bone growth abnormalities.

Kozlowski Rafinski Klicharska syndrome

Kozlowski-Rafinski-Klicharska syndrome: A rare congenital disorder characterized by abnormal bone development, cataracts and an unusual face.

Kozlowski Tsuruta Taki syndrome

Main name of condition: Dysplastic cortical hyperostosis Other names or spellings for Dysplastic cortical hyperostosis: Kozlowski-Tsuruta-Taki syndrome, Achondrogenesis-Kozlowski type, Chondrodysplasia, lethal neonatal Dysplastic cortical hyperostosis: A very rare syndrome characterized mainly by abnormal bone and brain development.

Kozlowski Warren Fisher syndrome

Kozlowski-Warren-Fisher syndrome: A very rare disorder characterized by a cloverleaf-shaped skull and abnormal skeletal development.

Kozlowski-Krajewska syndrome

Kozlowski-Krajewska syndrome (medical condition): A very rare syndrome characterized mainly by mental retardation, extra fingers and uncombable hair. Kozlowski-Krajewska syndrome: Another name for Mental retardation-polydactyly-uncombable hair (or close medical condition association). Mental retardation-polydactyly-uncombable hair: A very rare syndrome characterized mainly by mental retardation, extra fingers and uncombable hair.

Krabbe disease

Krabbe disease is a rare, often fatal degenerative disorder that affects the myelin sheath of the nervous system. It is a form of sphingolipidosis, as it involves dysfunctional metabolism of sphingolipids. This condition is inherited in an autosomal recessive pattern. The disease is named after the Danish neurologist Knud Haraldsen Krabbe (1885-1965).

Illinois, Kentucky and Pennsylvania have laws to test for Krabbe and other diseases at birth. There is a movement in Maine and other states to adopt such regulations.

Krabbe disease- atypical- due to Saposin A deficiency

Krabbe disease, atypical, due to saposin A deficiency: An inherited biochemical disorder which results in neurological regression within a few months of birth. Death usually occurs during the first few years of life. The disorder is similar to Krabbe disease but is differentiated by the genetic origin of the biochemical defect. Krabbe disease involves a defect in the galactocerebrosidase gene whereas atypical Krabbe disease involves a defect in the prosaposin gene which causes a deficiency of saposin A. Krabbe disease is a rare genetic disorder of the nervous system. It is a type of leukodystrophy.

Krasnow Qazi syndrome

Main name of condition: Cardiomyopathy cataract hip spine disease Other names or spellings for Cardiomyopathy cataract hip spine disease: Krasnow-Qazi syndrome, Familial dilated cardiomyopathy associated with cataracts and hip-spine disease, Krasnow Qazi Yermakov syndrome Cardiomyopathy cataract hip spine disease: A rare genetic disorder characterized by heart muscle disease, cataracts and hip and spinal problems.

Krause-Kivlin syndrome

Krause-Kivlin syndrome: A rare genetic disorder characterized by short limb dwarfism, mental retardation and Peters anomaly.

Krauss Herman Holmes syndrome

Krauss Herman Holmes syndrome: Another name for Carpal deformity - micrognathia - microstomia (or close medical condition association). Carpal deformity - micrognathia - microstomia: A very rare syndrome characterized by wrist bone defects, a small jaw and a small mouth.

Krieble Bixler syndrome

Krieble Bixler syndrome: A rare inherited syndrome characterized by blepharphimosis and various congenital anomalies involving the limbs, heart, ear and face.

Krukenberg carcinoma

Krukenberg carcinoma: However, when stomach cancer spreads to an ovary, the tumor in the ovary is called a Krukenberg tumor . Krukenberg carcinoma: A form of ovarian cancer.

Kurczynski Casperson syndrome

Kurczynski-Casperson syndrome: A very rare syndrome characterized mainly by premature fusion of skull bones, abnormal ears and webbing of the last two toes.

Kuskokwim disease

Kuskokwim disease: A rare syndrome where abnormal muscle attachment causes abnormalities such as muscle wasting or excessive growth and contractures.

Kuster Majewski Hammerstein syndrome

Kuster-Majewski-Hammerstein syndrome: A very rare disorder characterized mainly by alopecia, retarded growth and eye problems . The loss of scalp hair is repetitive and the eye problem involves ring-shaped degeneration of the retinal pigmentary layer.

Kuster syndrome

Kuster syndrome: A very rare congenital disorder characterized by a cleft lip, cleft palate, lip pits, and deformed limbs.

Kyasanur Forrest disease

Kyasanur-Forrest disease: A viral hemorrhagic fever that is transmitted to humans through tick bites. It is most prevalent in South Asia.

Kyphomelic dysplasia

Kyphomelic dysplasia (medical condition): A rare syndrome characterized mainly by broad, bowed bones affecting mainly the thigh bone and upper arm bones. Kyphomelic dysplasia: Another name for Bowing, congenital, short bones (or close medical condition association). Bowing, congenital, short bones: A rare syndrome characterized mainly by broad, bowed bones affecting mainly the thigh bone and upper arm bones.

Kyphosis brachyphalangy optic atrophy

Kyphosis brachyphalangy optic atrophy (medical condition): A rare condition characterized by eye and skeletal problems Kyphosis brachyphalangy optic atrophy: Another name for Berk-Tabatznik syndrome (or close medical condition association). Berk-Tabatznik syndrome: A rare condition characterized by eye and skeletal problems.

Kyrle disease

Kyrle disease: A skin disorder often associated with diabetes mellitus or kidney failure.

L-arginine:glycine amidinotransferase (AGAT) deficiency

L-arginine:glycine amidinotransferase (AGAT) deficiency is a rare condition that primarily affects the brain. People with AGAT deficiency generally have mild to moderate intellectual disability and delayed speech development. Some affected individuals develop autistic behaviors that affect communication and social interaction. Children with arginine:glycine amidinotransferase deficiency may not gain weight and grow at the expected rate (failure to thrive), and have delayed development of motor skills such as sitting and walking. Affected individuals may also have weak muscle tone and tend to tire easily.

Labrador lung

Labrador lung: A lung disease caused by breathing in dust containing silica and other inorganic compounds such as iron. The dusts deposit in the lungs where it can cause problems which may not become evident for many years. It is often seen in long-term miners.

Diseases