Pseudoxanthoma elasticum- dominant form
A very rare dominantly inherited disorder affecting elastic tissues in the body. The skin, eyes and heart blood vessels can be affected.
A very rare dominantly inherited disorder affecting elastic tissues in the body. The skin, eyes and heart blood vessels can be affected.
An inherited systemic disease of connective tissue involving progressive calcification and degeneration of elastic fibers throughout the body, including the skin, eyes and cardiovascular system.
A very rare recessively inherited disorder affecting elastic tissues in the body. The skin, eyes and heart blood vessels can be affected.
Psittacosis is an infection caused by Chlamydia psittaci, a type of bacteria found in the droppings of birds. Birds spread the infection to humans.
A rare malformation involving webbing of the neck area.
A very rare syndrome characterized mainly by mental retardation, unusual facial features and joint webbing
A very rare syndrome characterized mainly by mental retardation, webbed neck and finger abnormalities.
A very rare disorder where an abnormal membrane of tissue grows from the conjunctiva of the eye. The membrane can cover a part of the eye and impair vision .
A very rare malformation characterized by a web of tissue that develops at the elbow and prevents the arm from extending fully.
A very rare syndrome characterized by joint contractures, finger webbing, difficulty fully opening mouth and scoliosis .
A rare disorder involving skin, bone and muscle abnormalities with webbing in parts of the body such as the neck, elbows and back of legs.
A very rare syndrome characterized mainly by droopy eyelids, coloboma and mental retardation.
A very rare syndrome characterized mainly by droopy eyelids, coloboma and triogoncephaly as well as other variable features.
A rare genetic disorder characterized by drooping eyelids, hip problems, undescended testes and developmental delay.
A very rare syndrome characterized mainly by droopy eyelids, crossed eyes and ectopic pupil
A very rare disorder where there is an abnormal opening between a pulmonary artery and vein which can affect blood oxygenation.
A rare lung disease where protein and fat molecules accumulate in the distant parts of the lungs and affect breathing.
Pulmonary arterial hypertension (PAH) is a rare, progressive disorder characterized by high blood pressure (hypertension) in the arteries of the lungs (pulmonary artery) for no apparent reason. The pulmonary arteries are the blood vessels that carry blood from the right side of the heart through the lungs.The exact cause of PAH is unknown and although treatable, there is no known cure for the disease. PAH usually affects women between the ages of 30-60.
Pulmonary arteriovenous malformations are caused by abnormal communications between pulmonary arteries and pulmonary veins, which are most commonly congenital in nature. Although these lesions are quite uncommon, they are an important part of the differential diagnosis of common pulmonary problems such as hypoxemia and pulmonary nodules. Since their first description at autopsy in 1897 (1), these abnormal communications have been given various names including pulmonary arteriovenous fistulae, pulmonary arteriovenous aneurysms, hemangiomas of the lung, cavernous angiomas of the lung, pulmonary telangiectases, and pulmonary arteriovenous malformations (2). The term "pulmonary arteriovenous malformations" (PAVM) will be used in this review to describe these lesions.
A rare defect where the pulmonary artery or a portion of it fails to develop. The pulmonary artery has two branches, each of which goes to a different lung. The affected lung tends to be smaller and the bronchial arteries that supply it tend to be enlarged.
A very rare malformation where either the right or left pulmonary artery is missing and there are no other heart abnormalities. The severity of the condition is variable with some infants being severely affected while others are asymptomatic for decades.
A congenital heart defect where the pulmonary artery is closed off so that blood is unable to flow out to the lungs via the pulmonary artery. An abnormal opening between the two sides of the heart also allow blood to flow between the two heart chambers. The severity of symptoms depends on the degree of abnormality. Symptoms may be evident at birth or later.
A very rare disorder where the pulmonary branches are narrower than normal. The severity of symptoms depends on the degree of narrowing.
A rare disorder characterized by the presence of numerous small lung cysts at birthinfant born with lung cysts which severely affects breathing and blood pressure and generally results in infant death.
A severe complication of mountain sickness resulting from a lack of oxygen at high altitudes.