Diseases

Cervical intraepithelial neoplasia

Cervical intraepithelial neoplasia (CIN), is the potentially premalignant transformation and abnormal growth (dysplasia) of squamous cells on the surface of the cervix. CIN is not cancer, and is usually curable. Most cases of CIN remain stable, or are eliminated by the host's immune system without intervention. However a small percentage of cases progress to become cervical cancer, usually cervical squamous cell carcinoma (SCC), if left untreated. The major cause of CIN is chronic infection of the cervix with the sexually transmitted human papillomavirus (HPV), especially the high-risk HPV types 16 or 18. Over 100 types of HPV have been identified. About a dozen of these types appear to cause cervical dysplasia and may lead to the development of cervical cancer. Other types cause warts.

The earliest microscopic change corresponding to CIN is dysplasia of the epithelial or surface lining of the cervix, which is essentially undetectable by the woman. Cellular changes associated with HPV infection, such as koilocytes, are also commonly seen in CIN. CIN is usually discovered by a screening test, the Papanicolau or "Pap" smear. The purpose of this test is to detect potentially precancerous changes. Pap smear results may be reported using the Bethesda System. An abnormal Pap smear result may lead to a recommendation for colposcopy of the cervix, during which the cervix is examined under magnification. A biopsy is taken of any abnormal appearing areas. Cervical dysplasia can be diagnosed by biopsy.

Cervical ribs sprengel anomaly anal atresia urethral obstruction

A rare disorder characterized mainly by kidney and urinary system abnormalities, scoliosis and omphalocele. The features of the disorder are variable with male cases tending to be more severe than female cases. Only a few cases of this condition have been reported.

Cervicooculoacoustic syndrome

A rare genetic disorder characterized by ocular palsy, congenital perceptive deafness and fusion of the vertebrae in the neck.

Chagas disease

Chagas disease (American trypanosomiasis), is a tropical parasitic disease caused by the protozoan Trypanosoma cruzi. It is spread mostly by insects known as Triatominae or kissing bugs. The symptoms change over the course of the infection. In the early stage, symptoms are typically either not present or mild, and may include fever, swollen lymph nodes, headaches, or local swelling at the site of the bite. After 8–12 weeks, individuals enter the chronic phase of disease and in 60–70% it never produces further symptoms. The other 30 to 40% of people develop further symptoms 10 to 30 years after the initial infection, including enlargement of the ventricles of the heart in 20 to 30%, leading to heart failure. An enlarged esophagus or an enlarged colon may also occur in 10% of people.

T. cruzi is commonly spread to humans and other mammals by the blood-sucking "kissing bugs" of the subfamily Triatominae. These insects are known by a number of local names, including: vinchuca in Argentina, Bolivia, Chile and Paraguay, barbeiro (the barber) in Brazil, pito in Colombia, chinche in Central America, and chipo in Venezuela. The disease may also be spread through blood transfusion, organ transplantation, eating food contaminated with the parasites, and by vertical transmission (from a mother to her fetus). Diagnosis of early disease is by finding the parasite in the blood using a microscope. Chronic disease is diagnosed by finding antibodies for T. cruzi in the blood.

Prevention mostly involves eliminating kissing bugs and avoiding their bites. Other preventative efforts include screening blood used for transfusions. A vaccine has not been developed as of 2013. Early infections are treatable with the medication benznidazole or nifurtimox. Medication nearly always results in a cure if given early, but becomes less effective the longer a person has had Chagas disease. When used in chronic disease, medication may delay or prevent the development of end–stage symptoms. Benznidazole and nifurtimox cause temporary side effects in up to 40% of people including skin disorders, brain toxicity, and digestive system irritation.

It is estimated that 7 to 8 million people, mostly in Mexico, Central America and South America, have Chagas disease as of 2013. In 2006, Chagas was estimated to result in 12,500 deaths per year. Most people with the disease are poor, and most people with the disease do not realize they are infected. Large-scale population movements have increased the areas where Chagas disease is found and these include many European countries and the United States. These areas have also seen an increase in the years up to 2014.[9] The disease was first described in 1909 by Carlos Chagas after whom it is named. It affects more than 150 other animals.

Chalazion

Slow-growing swelling of the upper or lower eyelid usually caused by a blockage in the oil glands in the eyelid.

Chancroid

Chancroid (also known as soft chancre and ulcus molle ) is a bacterial sexually transmitted infection characterized by painful sores on the genitalia. Chancroid is known to spread from one individual to another solely through sexual contact.

Chandler’s syndrome

A very rare eye disorder characterized by progressive corneal dystrophy and glaucoma which result in loss of vision.

CHANDS

A rare syndrome characterized mainly by fused eyelids, curly hair and abnormal nails.

Chang Davidson Carlson syndrome

(medical condition): A very rare syndrome characterized by eye disease (retinal pigmentosa) and the absence of puberty caused by a deficiency of hormones that stimulate the sex organs (gonads) into producing the hormones that initiate puberty.

Chaotic atrial tachycardia

Abnormal irregular, rapid heart beat that originates in the atrial heart chamber of the heart and occurs in infants and young children. The heart has periods of normal rhythm between the periods of irregularity. The condition occurs in infants and young children but may also occur in adults who have disorders such as chronic obstructive pulmonary disease

CHAPLE disease

CHAPLE—which stands for complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy—is an inherited immune disease that causes the complement system (the part of your immune system that defends the body against injury and foreign invaders like bacteria and viruses) to become overactive.

Char syndrome

A very rare genetic disorder characterized mainly by an unusual facial appearance, abnormal little fingers and a heart abnormality.

Charcot Marie Tooth disease deafness recessive type

CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4D is inherited recessively and is caused by a defected in a gene in chromosome 8 and is a severe form of the disease that also involves deafness.

Charcot-Marie-Tooth disease

Charcot–Marie–Tooth disease (CMT), is a genetically and clinically heterogeneous group of inherited disorders of the peripheral nervous system characterised by progressive loss of muscle tissue and touch sensation across various parts of the body. Currently incurable, this disease is the most commonly inherited neurological disorder, and affects approximately 1 in 2,500 people equating to approximately 26,000 people in the United Kingdom and 128,000 people in the United States. CMT was previously classified as a subtype of muscular dystrophy.

Charcot-Marie-Tooth disease and deafness

CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4D is inherited recessively and is caused by a defected in a gene in chromosome 8 and is a severe form of the disease that also involves deafness.

Charcot-Marie-Tooth disease type 2S

A rare subtype of axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of both the lower and upper limbs, absent or reduced deep tendon reflexes, mild sensory loss, foot drop, and pes cavus leading eventually to wheelchair dependance. Some patients present with early hypotonia and delayed motor development. Scoliosis and variable autonomic disturbances may be associated.

Charcot-Marie-Tooth disease with ptosis and parkinsonism

CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. This particular type of CMT also involves a drooping upper eyelid and parkinsonism.

Charcot-Marie-Tooth disease with pyramidal features- autosomal dominant

CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 5 has an autosomal dominant inheritance, progresses slowly and involves movement disorders

Charcot-Marie-Tooth disease- dominant intermediate 1

CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. The condition is denoted dominant intermediate because it is inherited dominantly and the nerve conduction speed is at an intermediate level. It involves a defect in chromosome 10

Charcot-Marie-Tooth disease- dominant intermediate 2

CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. The condition is denoted dominant intermediate because it is inherited dominantly and the nerve conduction speed is at an intermediate level. It involves a defect in the dynamin-2 gene on chromosome 19p13.2

Charcot-Marie-Tooth disease- dominant intermediate 3

CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. The condition is denoted dominant intermediate because it is inherited dominantly and the nerve conduction speed is at an intermediate level. It involves a defect in the tyrosyl-tRNA gene on chromosome 1p35.

Charcot-Marie-Tooth disease- Type 1A

Charcot-Marie-Tooth type 1A (Type 1A, CMT1A; OMIM: 118220; Orphanet:ORPHA101081) is the most common form of CMT, with an estimated prevalence of 1 in 5,000 it accounts for about 70% of all CMT type 1 cases and 57% of all CMT cases.

It is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1A is inherited as an autosomal dominant pattern and involves the duplication of the PMP22 gene on chromosome 17.

Charcot-Marie-Tooth disease- Type 1B

CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1B is inherited as an autosomal dominant pattern and involves a defect in the MPZ gene on chromosome 1. The severity of the condition is variable depending on the age of onset with severe infantile cases resulting in the inability to walk at an early age.

Charcot-Marie-Tooth disease- Type 1C

CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1C is inherited as an autosomal dominant pattern and involves a defect in the LITAF/SIMPLE gene on chromosome 16.