Disease – Page 57 – CheckOrphan

Cystic hygroma lethal cleft palate

Cystic hygroma, lethal - cleft palate: A very rare lethal syndrome characterized mainly by cysts that form in the lymphatic system as well as an opening in the palate (cleft palate).

Cystic medial necrosis of aorta

Familial thoracic aortic aneurysm (also referred to as familial aortic dissection or cystic medial necrosis of aorta)is an autosomal dominantdisorder of large arteries. A degenerative breakdown of collagen, elastin, and smooth muscle caused by aging contribute to weakening of the wall of the artery. In the aorta, this can result in the formation of a fusiform aneurysm. There is also increased risk of aortic dissection.

Cysticercosis

Cysticercosis, or neurocysticercosis, is the most common parasitic infestation of the central nervous system worldwide. Humans develop cysticercosis when they ingest eggs or larvae of the tapeworm Taenia solium. The eggs and larvae are usually found in fecally-contaminated water and undercooked pork.

Cystin transport- protein defect of

Cytomegalovirus retinitis

Cytomegalovirus retinitis, also known as CMV retinitis, is an inflammation of the eye's retina that can lead to blindness.

Cytoplasmic body myopathy

Cytoplasmic body myopathy: A rare group of muscle diseases caused by protein deposits inside the muscle cells. The severity, rate of progression and extent of muscle involvement is variable.

Czech dysplasia- metatarsal type

Czech dysplasia metatarsal type or progressive pseudorheumatoid arthritis with hypoplastic toes (OMIM no. 609162) is an autosomal-dominant skeletal dysplasia first described in 2004 by Marik et al.1 Affected individuals have a normal stature but usually complain of severe joint pain before adolescence. Restricted mobility in the lower limb joints and a kyphoscoliosis are frequently observed. A typical phenotypic hallmark of the condition is shortening of the third and fourth toes, which is the result of metatarsal hypoplasia. Skeletal radiographs usually reveal signs of early osteoarthrosis in the spine and lower limb joints. Platyspondyly with irregular endplates and elongated vertebrae can be observed in the more severe cases.

Czeizel Losonci syndrome

Czeizel-Losonci syndrome: A very rare syndrome characterized by missing fingers, ureter abnormalities, webvbed fingers and toes and abnormal spinal development.

Czeizel syndrome

Czeizel syndrome: A rare lethal syndrome characterized by cleft palate, uterus abnormalities and omphalocele (protrusion of abdominal organs such as intestine through the navel).

D ercole syndrome

D ercole syndrome: A very rare syndrome characterized mainly by short stature, small head and heart defects.

D-glycericacidemia

Glycine encephalopathy, also known as non-ketotic hyperglycinemia or NKH, is an autosomal recessive metabolic disorder characterized by abnormally high levels of the amino acid glycine. Glycine acts as a neurotransmitter, which is a chemical messenger that transmits signals in the brain.

D-minus hemolytic uremic syndrome (D-HUS)

D-minus hemolytic uremic syndrome (D-HUS) - pregnancy related: A rare condition characterized by hemolytic anemia, thrombocytopenia and kidney failure. This type is not associated with diarrhea and is triggered by pregnancy.

Daentl Towsend Siegel syndrome

Daentl-Towsend-Siegel syndrome: A very rare syndrome characterized blue sclerae, kidney disease and fluid buildup in the skull.

Dahlberg Borer Newcomer syndrome

Dahlberg syndrome: A rare condition characterized by hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and short end bones in fingers and toes.

Daish Hardman Lamont syndrome

Daish-Hardman-Lamont syndrome: A very rare syndrome characterized mainly by loose joints, tall stature and buildup of fluid inside the skull

Dandy Walker facial hemangioma

Dandy-Walker - facial hemangioma: A very rare syndrome characterized mainly by a brain malformation (Dandy-Walker) and a hemangioma on the face (mass of dilated blood vessels).

Dandy Walker malformation postaxial polydactyly

Dandy-Walker malformation postaxial polydactyly: A very rare syndrome where the Dandy-Walker malformation is associated with extra fingers and toes.

Dandy Walker syndrome

Dandy-Walker syndrome (DWS), or Dandy-Walker complex, is a congenital brain malformation involving the cerebellum and the fluid filled spaces around it. The Dandy-Walker complex is a genetically sporadic disorder that occurs one in every 25,000 live births, mostly in females

Dandy Walker syndrome recessive form

Dandy Walker syndrome recessive form: A rare recessively inherited brain malformation where a cyst develops in the brain which can interfere with the drainage of cerebrospinal fluid and lead to hydrocephalus. The severity of the condition is variable and symptoms tend to only occur if the fluid builds up inside the skull.

Dandy Walker variant

Dandy-Walker syndrome refers to a group of specific, congenital (present at birth) brain malformations, and is a common cause of hydrocephalus (increased fluid in the brain).

Dandy-Walker malformation with mental retardation- basal ganglia disease- and seizures

Dandy-Walker malformation with mental retardation, basal ganglia disease, and seizures: A rare X-linked syndrome characterized mainly by mental retardation and seizures.

Dandy-walker malformation with mental retardation- macrocephaly- myopia- and brachytelephalangy

Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy: A very rare syndrome characterized mainly by mental retardation, large head, short fingers, nearsightedness and brain abnormalities (Dandy-Walker type).

Daneman Davy Mancer syndrome

Daneman Davy Mancer syndrome: A very rare syndrome characterized mainly by kidney, thyroid and finger and toea abnormalities

Danubian endemic familial nephropathy

Danubian endemic familial nephropathy (DEFN), sometimes called Balkan endemic nephropathy,is a form of interstitial nephritis. It was first identified in the 1920s among several small, discrete communities along the Danube River and its major tributaries, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria.

Darier’s disease

Darier's disease is a genetic disorder discovered by French dermatologist Ferdinand-Jean Darier. Darier's is characterized by dark crusty patches on the skin, sometimes containing pus. The crusty patches are also known as keratotic papules, keratosis follicularis or dyskeratosis follicularis.

Diseases