Diseases

Cutaneous Venous Malformations

Cutaneous Venous Malformations (VMs) are common, benign, present-at-birth vascular birthmarks made of malformed, dilated veins, appearing as blue/purple, soft, compressible skin swellings that often grow proportionally with the child and can become painful or bleed, especially with hormonal changes or activity, sometimes requiring treatment like sclerotherapy. While usually isolated, they can be part of syndromes like Blue Rubber Bleb Nevus Syndrome (BRBNS) and may involve deep tissues, causing functional issues. Key features include dependence on gravity (worse when hanging down), phleboliths (calcified clots) on X-ray, and sometimes associated clotting disorders (LIC). 

Cutis gyrata acanthosis nigricans craniosynostosis

This syndrome is characterised by craniofacial and ear defects, skin anomalies consisting of cutis gyrata, acanthosis nigricans, and skin tags, anogenital anomalies, and prominent umbilical stump. It has been described in 6 cases. The skin furrows have a corrugated appearance and are widespread. Cutis gyrata variably affects the scalp, forehead, face, preauricular area, neck, trunk, palms and soles, and in one case partly labia majora

Cutis laxa

Cutis laxa: A connective tissue disorder which may be acquired or present at birth. It is characterized by slack or loose skin which may be thicker and darker than normal.

Cutis laxa corneal clouding mental retardation

Cutis laxa corneal clouding mental retardation (medical condition): A rare inherited disorder characterized by loose, inelastic skin, involuntary limb movements, cloudy corneas and other abnormalities.

Cutis laxa osteoporosis

Cutis laxa - osteoporosis: A very rare disorder characterized mainly by loose skin and osteoporosis. The bones are so weak they fracture easily during infancy and can result in bone deformity

Cutis laxa- dominant type

Cutis laxa, dominant type: A dominantly inherited form of cutis laxa which is characterized by loose, inelastic skin. The skin changes may begin at any age.

Cutis laxa- recessive

Cutis laxa, recessive: A recessively inherited form of cutis laxa which is characterized by loose, inelastic skin and is often associated with other serious internal disorders.

Cyclosporiasis

Cyclosporiasis refers to infection by the spore-forming protozoan known as Cyclospora. Protozoa are a group of parasites that infect the human intestine. Parasites are organisms that live in another body, called the host, and get food and liquids from that host. This parasite is a member of the group of protozoa known as coccidia, to which Cryptosporidia also belongs. This group of parasites infects the human intestine, and causes chronic recurrent infections in those with altered immunity or AIDS.

Cyprus facial neuromusculoskeletal syndrome

Cyprus facial neuromusculoskeletal syndrome: A rare inherited syndrome characterized by variable neurological, muscular and skeletal abnormalities as well as a characteristic face.

Cystic adenomatoid malformation of lung

Cystic adenomatoid malformation of lung: A rare birth condition where the lungs fail to develop normally during the fetal stage and cysts form in parts of the lung instead of normal alveolar tissue.

Cystic fibrosis

Cystic fibrosis (CF) is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body's organs. The disorder's most common signs and symptoms include progressive damage to the respiratory system and chronic digestive system problems. The features of the disorder and their severity varies among affected individuals.

Mucus is a slippery substance that lubricates and protects the linings of the airways, digestive system, reproductive system, and other organs and tissues. In people with cystic fibrosis, the body produces mucus that is abnormally thick and sticky. This abnormal mucus can clog the airways, leading to severe problems with breathing and bacterial infections in the lungs. These infections cause chronic coughing, wheezing, and inflammation. Over time, mucus buildup and infections result in permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs.

Most people with cystic fibrosis also have digestive problems. Some affected babies have meconium ileus, a blockage of the intestine that occurs shortly after birth. Other digestive problems result from a buildup of thick, sticky mucus in the pancreas. The pancreas is an organ that produces insulin (a hormone that helps control blood sugar levels). It also makes enzymes that help digest food. In people with cystic fibrosis, mucus blocks the ducts of the pancreas, reducing the production of insulin and preventing digestive enzymes from reaching the intestines to aid digestion. Problems with digestion can lead to diarrhea, malnutrition, poor growth, and weight loss. In adolescence or adulthood, a shortage of insulin can cause a form of diabetes known as cystic fibrosis-related diabetes mellitus (CFRDM).

Cystic hygroma

A cystic hygroma is congenital multiloculated lymphatic lesion that can arise anywhere, but is classically found in the left posterior triangle of the neck.

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.

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.