Seghers syndrome
A very rare syndrome characterized mainly by spinal abnormalities and abnormal throat development where the throat opening at the back of the mouth is absent.
A very rare syndrome characterized mainly by spinal abnormalities and abnormal throat development where the throat opening at the back of the mouth is absent.
A rare syndrome characterized mainly by seizures, mental retardation and hair abnormalities.
Excessive exposure to selenium. Selenium is essential to the diet in small amounts but is toxic in large amounts. Poisoning can occur through inhalation or ingestion.
A very rare disorder characterized mainly by kidney abnormalities, enlarged bladder due to an obstruction in the urethra and fused legs.
Seminoma is one type of testicular cancer[1] that is believed to originate from the germinal epithelium of the seminiferous tubules.
A very rare syndrome characterized mainly by anemia, missing thumb, an immune disorder and an excessive buildup of fluid in the fetus or newborn (hydrops fetalis).
A very rare syndrome characterized mainly by an unusual facial appearance and an unusual condition where there a cystic spaces around blood vessels as they enter the brain.
A very rare syndrome characterized mainly by obesity, buildup of fluid inside the skull (hydrocephalus) and impaired sex hormone production.
Cataract cardiomyopathy characterized by congenital cataracts, hypertrophic cardiomyopathy, mitochondrial myopathy, and lactic acidosis. When patients perform submaximal prolonged exercise, they develp lactic acidemia. A bilateral and total cataract appears and progresses quickly in the first few weeks of life, requiring surgery.
orphanet
A rare inherited disorder characterized by kidney dysfunction and progressive eye disease
A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 4 is caused by a chromosomal defect on chromosome 1p36.
A rare infectious disease caused by a bacteria called Ehrlichia sennetsu.
Sensorineural hearing loss (SNHL) is a type of hearing loss, or deafness, in which the root cause lies in the inner ear (cochlea and associated structures), vestibulocochlear nerve (cranial nerve VIII), or central auditory processing centers of the brain. SNHL accounts for about 90% of hearing loss reported. A hallmark of such hearing loss is that it is asymmetrically distributed usually toward the high frequency region, or may have a notch at some frequency. SNHL is generally permanent and can be mild, moderate, severe, profound, or total.
A very rare syndrome characterized by progressive ataxia, eye muscle problems and a speech disorder (dysarthria)
A rare genetic ectodermal disorder characterized by ichthyosiform erythroderma and sensorineural deafness.
A rare inherited disorder characterized by abnormal tooth enamel, cataracts and a brain abnormality. The brain abnormality involves a narrowed duct (aqueduct of Sylvius) which connects the third and fourth ventricle and allows brain and spinal fluid to pass through.
Septo-optic dysplasia is a rare, heterogeneous condition characterised by a combination of pituitary gland hypoplasia, optic nerve hypoplasia and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum.1
A very rare syndrome characterized mainly by finger and toe abnormalities as well as abnormal development of the optic nerve and pituitary gland. Antenatal exposure to sedatives may be a factor in the cause of the disorder.
A very rare syndrome characterized mainly by nail abnormality, thin skin and sparse scalp hair.
A rare recessively inherited genetic disorder characterized by ankyloblepharon, ectodermal dysplasia, and cleft lip and/or cleft palate. The recessive form of this condition is distinguished by the presence at birth of adhesions between the upper and lower jaws.
An adverse reaction to a drug called digitalis. The main symptoms involve heart and/or vision problems and death can occur in some cases.
A very rare syndrome characterized mainly by unusual s-shaped calf bone (fibula) as well as the development of numerous cysts in the kidneys.
Sertoli-Leydig cell tumour, also known as arrhenoblastoma or androblastoma, is a member of the sex cord-stromal tumour group of ovarian and testicular cancers. The tumour is rare, comprising less than 1% of ovarian tumours,[citation needed]. While the tumour can occur at any age, it occurs most often in young adults.