Pseudomyxoma peritonei is a very rare type of cancer that usually begins in your appendix as a small growth, called a polyp. Or, more rarely, it can start in other parts of the bowel, the ovary or bladder. This polyp eventually spreads through the wall of your appendix and spreads cancerous cells to the lining of the abdominal cavity (the peritoneum). These cancerous cells produce mucus, which collects in the abdomen as a jelly like fluid called mucin.
Peroxisomal acyl-CoA oxidase deficiency is a disorder that causes deterioration of nervous system functions (neurodegeneration) beginning in infancy. Newborns with peroxisomal acyl-CoA oxidase deficiency have weak muscle tone (hypotonia) and seizures. They may have unusual facial features, including widely spaced eyes (hypertelorism), a low nasal bridge, and low-set ears. Extra fingers or toes (polydactyly) or an enlarged liver (hepatomegaly) also occur in some affected individuals.
Most babies with peroxisomal acyl-CoA oxidase deficiency learn to walk and begin speaking, but they experience a gradual loss of these skills (developmental regression), usually beginning between the ages of 1 and 3. As the condition gets worse, affected children develop exaggerated reflexes (hyperreflexia), increased muscle tone (hypertonia), more severe and recurrent seizures (epilepsy), and loss of vision and hearing. Most children with peroxisomal acyl-CoA oxidase deficiency do not survive past early childhood.
Idiopathic intestinal pseudo-obstruction is a condition that involves symptoms of intestinal blockage without physical evidence of such a blockage.
A very rare syndrome characterized mainly by malformations involving the hands, feet ears and face as well as deafness.
An acquired condition where the blood has the normal number of red blood cells but has a reduced plasma volume. It usually occurs in males with weight and blood pressure problems who smoke
A very rare syndrome characterized mainly by absent eyelashes and eyebrows as well a mental retardation .
A very rare chromosomal disorder characterized mainly by abnormal forebrain development (holoprosencephaly), underdeveloped midface and extra fingers.
A condition marked by raised intracranial pressure and characterized clinically by HEADACHES; NAUSEA; PAPILLEDEMA, peripheral constriction of the visual fields, transient visual obscurations, and pulsatile TINNITUS. OBESITY is frequently associated with this condition, which primarily affects women between 20 and 44 years of age. Chronic PAPILLEDEMA may lead to optic nerve injury (see OPTIC NERVE DISEASES) and visual loss (see BLINDNESS). Source - Diseases Database
A rare genetic malformation characterized by ambiguous genitalia in males due to absent or reduced testosterone production or response.
A group of inherited, progressive connective tissue disorders affecting the skin, eyes and cardiovascular system. The condition is characterized by calcium deposits in the connective tissue which affects its ability to function. Some cases remain undiagnosed to the mildness of symptoms.
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.