Diseases

Craniosynostosis contractures cleft

Main name of condition: Iida-Kannari syndrome Other names or spellings for Iida-Kannari syndrome: craniosynostosis [joint contractures - ear deformity - cleft palate - scoliosis - other features], Craniosynostosis with joint contractures, ear deformity, cleft palate, scoliosis, and other features Craniosynostosis with joint contractures, ear deformity, cleft palate, scoliosis, and other features :-A rare congenital disorder characterized by joint contractures, scoliosis, cleft palate, abnormal ears and premature fusion of skull bones.

Craniosynostosis Fontaine type

Craniosynostosis Fontaine type: A very rare disorder characterized primarily by the premature fusion of skull bones, hand, foot and stomach anomalies and a brain malformation (bilateral periventricular nodular heterotopia).

Craniosynostosis Maroteaux Fonfria type

Craniosynostosis Maroteaux Fonfria type: A rare disorder which is similar to a condition called Apert syndrome but also involves extra fingers and toes. Apert syndrome is characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally.

Craniosynostosis radial aplasia syndrome

Craniosynostosis radial aplasia syndrome: A rare genetic disorder characterized by premature closing of skull bones, growth deficiency and anal, limb and urogenital craniofacial abnormalities.

Craniosynostosis- anal anomalies- and porokeratosis

Craniosynostosis, anal anomalies, and porokeratosis: A very rare disorder characterized primarily by the premature fusion of skull bones (coronal sutures), anal anomalies and a skin disorder called porokeratosis.

Craniosynostosis- sagittal- with Dandy-Walker malformation and hydrocephalus

Craniosynostosis, sagittal, with Dandy-Walker malformation and hydrocephalus: A very rare disorder characterized primarily by the premature fusion of skull bones (sagittal), the Dandy-Walker malformation and a buildup of fluid in the brain (hydrocephalus). The Dandy-Walker malformation is where a cyst develops in the back of the brain and interferes with the movement of fluid through the brain resulting in an accumulation of fluid.

Craniotelencephalic dysplasia

Craniotelencephalic dysplasia (medical condition): A very rare syndrome characterized primarily by premature fusion of various skull bones and abnormal brain development.

Crawfurd syndrome

Crawfurd syndrome: A very rare disorder characterized mainly by an absent or small spleen, abnormal kidney development and cysts in the liver, kidneys and pancreas.

Creatine Transporter Deficiency

Creatine Transporter Deficiency is a rare x-linked inborn error of creatine metabolism, broadly classified as an Autism Spectrum Disorder and form of x-linked mental retardation (XLMR). CTD is caused by a defect in the SLC6A8 gene that encodes the creatine transporter protein necessary for the transport of creatine across the blood-brain barrier and across cell membranes. Creatine is taken into cells via the creatine transporter, where it plays an essential role in energy homeostasis, particularly for tissues with high and fluctuating energy demands, such as neurons. Simply put, patients with CTD lack creatine in the brain, which is an essential component of the energy system, and as a result the brain does not have the energy to function properly. This lack of energy results in the symptoms associated with CTD.

Creeping disease

Creeping disease: A skin disease caused by a parasite which tunnels its way through the skin leaving a visible red, itchy, linear eruption on the skin where it has been. The hookworm parasite can't use humans to complete its life cycle but continues to travel through the skin until it dies. Transmission usually occurs through skin contact with warm, moist soil contaminated by the feces of an infected animal.

CREST syndrome

CREST stands for Calcinosis, Raynaud's phenomenon, Esophageal dysfunction, Sclerodactyly, and Telangiectasia.

Cretinism

Cretinism (medical condition): A congenital deficiency of thyroid hormone due to complete or partial failure of the thyroid gland.

Cretinism athyreotic

Cretinism athyreotic: A rare form of congenital hypothyroidism that causes mental and physical growth retardation in infants or children. Prompt thyroid hormone therapy is essential in order to prevent progressive neurological and motor deterioration.

Creutzfeldt-Jakob disease

Creutzfeldt–Jakob disease  or CJD is a degenerative neurological disease that is incurable and invariably fatal. CJD is at times called a human form of mad cow disease (bovine spongiform encephalopathy or BSE). However, given that BSE is believed to be the cause of variant Creutzfeldt–Jakob (vCJD) disease in humans, the two are often confused.

CJD is caused by an agent called a prion. Prions are misfolded proteins that replicate by converting their properly folded counterparts, in their host, to the same misfolded structure they possess. CJD causes the brain tissue to degenerate rapidly, and as the disease destroys the brain, the brain develops holes and the texture changes to resemble that of a kitchen sponge.

Cri du chat syndrome

Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p- (said minus) syndrome or Lejeune's syndrome, is a rare genetic disorder due to a missing part (deletion) of chromosome 5. Its name is a French term (cat-cry or call of the cat) referring to the characteristic cat-like cry of affected children. It was first described by Jérôme Lejeune in 1963. The condition affects an estimated 1 in 50,000 live births across all ethnicities and is more common in females by a 4:3 ratio.

Crigler Najjar syndrome type 1

Crigler-Najjar syndrome, type 1: A rare congenital condition involving a total absence of the liver enzyme called glucoronyl transferase which is needed to change bilirubin into a form that can be removed from the body. The bilirubin builds up in the body and causes damage and severe symptoms. Mutations in the UGT1A1 gene cause Crigler-Najjar syndrome. This gene provides instructions for making the bilirubin uridine diphosphate glucuronosyl transferase (bilirubin-UGT) enzyme, which is found primarily in liver cells and is necessary for the removal of bilirubin from the body.

Crigler Najjar syndrome- type 2

Crigler-Najjar syndrome, type 2: A rare congenital condition involving a partial absence of the liver enzyme called glucoronyl transferase which is needed to change bilirubin into a form that can be removed from the body. The bilirubin builds up in the body and causes damage and symptoms but to a lesser extent than in type 1.

Crisponi syndrome

Crisponi syndrome: A very rare syndrome characterized by excessive muscle contractions in response to stimulus, claw hand, distinctive facial features and fever. Most patients die within months of birth due to complications of hyperthermia but some cases are slowly progressive with longer survival possible.

Crohn’s disease of the esophagus

Crohn's disease of the esophagus: A rare disorder where Crohn's disease occurs in the esophagus. Crohn's disease is a chronic inflammation of the walls of the digestive tract and usually occurs in the intestines.

Crome syndrome

Crome syndrome: A very rare disorder characterized by various abnormalities including mental retardation, epilepsy and eye and kidney problems.

Cronkhite-Canada disease

Cronkhite-Canada disease: A rare condition characterized primarily by polyps in the digestive tract, hair loss and nail problems.

Crossed polydactyly type 1

Crossed polydactyly type 1: A birth defect where there is an extra big toe combined with and extra finger on the opposite side to the thumb or and extra thumb and an extra toe on the opposite side to the thumb. Webbing of various fingers and toes is also often present.

Crossed polysyndactyly

Crossed polysyndactyly: A rare malformation characterized by an extra finger beside the small finger, duplication of the big toe and webbing of various fingers and toes.

Crouzon syndrome

Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Since the branchial arches are important developmental features in a growing embryo, disturbances in their development create lasting and widespread effects.