Non-lissencephalic cortical dysplasia: A brain development abnormality characterized by the development of small brain convolutions that generally cause mental retardation. Symptoms depend on the location and extent of the abnormality.
Non-small-cell lung carcinoma (NSCLC) is any type of epithelial lung cancer other than small cell lung carcinoma (SCLC). It includes squamous cell carcinoma, adenocarcinoma and large cell carcinoma. As a class, NSCLCs are relatively insensitive to chemotherapy, compared to small cell carcinoma. When possible, they are primarily treated by surgical resection with curative intent, although chemotherapy is increasingly being used both pre-operatively (neoadjuvant chemotherapy) and post-operatively (adjuvant chemotherapy).
The non-dystrophic myotonias are an important group of skeletal muscle channelopathies electrophysiologically characterized by altered membrane excitability. It is characterized by a muscle disorder where the voluntary muscles are slow to relax after movement. The problem occurs intermittently and can sometimes be painful but no muscle wasting occurs. Many distinct clinical phenotypes are now recognized and range in severity from severe neonatal myotonia with respiratory compromise through to milder late-onset myotonic muscle stiffness. Specific genetic mutations in the major skeletal muscle voltage gated chloride channel gene and in the voltage gated sodium channel gene are causative in most patients.
The non-dystrophic myotonias are now known to be caused by dysfunction of key skeletal muscle ion channels and include myotonia congenita, paramyotonia congenita and the sodium channel myotonias.
Noninsulin-dependent diabetes mellitus (NIDDM) with deafness, a rare disorder characterized by deafness associated with noninsulin-dependent diabetes mellitus. It has the following alternative name:
• diabetes and deafness, maternally inherited; MIDD
• Ballinger-Wallace syndrome
• diabetes mellitus, type II, with deafness
• noninsulin-dependent diabetes mellitus with deafness
• Diabetes mellitus and deafness (DAD)
Nonkeratan-sulfate-excreting Morquio syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of certain enzymes needed to break it down. This disorder is distinguished form other similar conditions by the fact that no keratosulfate is excreted in the urine
Nonne-Milroy disease: A rare form of lymphedema (dilation of the lymphatic system) which is present at birth and causes enlargement of various parts of the body
Germ cell tumors are broadly divided in two classes:[2] * The germinomatous or seminomatous germ cell tumors (GGCT, SGCT) include only germinoma and its synonyms dysgerminoma and seminoma. * The nongerminomatous or nonseminomatous germ cell tumors (NGGCT, NSGCT) include all other germ cell tumors, pure and mixed. The two classes reflect an important clinical difference. Compared to germinomatous tumors, nongerminomatous tumors tend to grow faster, have an earlier mean age at time of diagnosis (~25 years versus ~35 years, in the case of testicular cancers), and have a lower 5 year survival rate. The survival rate for germinomatous tumors is higher in part because these tumors are exquisitely sensitive to radiation, and they also respond well to chemotherapy. The prognosis for nongerminomatous has improved dramatically, however, due to the use of platinum-based chemotherapy regimens
An inherited form of hearing impairment or deafness that is not associated with any other inherited problems.Tremendous progress has been made in our understanding of the molecular basis of hearing and hearing loss. Through recent advances, we have begun to understand the fascinating biology of the auditory system and unveiled new molecular mechanisms of hearing impairment. Changes in the diagnostic impact of genetic testing have occurred, as well as exciting developments in therapeutic options. Molecular diagnosis, which is already a reality for several hearing-associated genes, will doubtlessly continue to increase in the near future, both in terms of the number of mutations tested and the spectrum of genes. Genetic analysis for hearing loss is mostly used for diagnosis and treatment, and relatively rarely for reproductive decisions, in contrast to other inherited disorders. Inherited hearing loss, however, is characterized by impressive genetic heterogeneity. An abundance of genes carry a large number of mutations, but specific mutations in a single gene may lead to syndromic or non-syndromic hearing loss. Some mutations predominate in individual ethnic groups. For clinical and laboratory diagnosticians, it is challenging to keep abreast of the unfolding discoveries. This review aims to provide the framework pertinent to diagnosticians and a practical approach to mutation analysis in the hearing impaired
A very rare syndrome characterized mainly by heart problems, facial anomalies and a sunken chest.
Noonan syndrome is a genetic disorder that prevents normal development in various parts of the body. A person can be affected by Noonan syndrome in various ways. These include unusual facial characteristics, short stature, heart defects, other physical problems and possible developmental delays.
Noonan syndrome is caused by a genetic mutation and is acquired when a child inherits a copy of an affected gene from a parent (dominant inheritance). It can also occur as a spontaneous mutation, meaning there's no family history involved. Noonan syndrome belongs to a group of related conditions called the RASopathies. These conditions have some overlapping features and are all caused by genetic changes that disrupt the body's RAS pathway, affecting growth and development
There's no specific treatment for Noonan syndrome. Management focuses on controlling the disease's symptoms and complications. Growth hormone may be used to treat short stature in some people with Noonan syndrome.
A genetic condition characterized by short stature, distinctive facial characteristics, learning difficulties, congenital heart conditions and various other anomalies
A very rare form of the brain formation disorder called lissencephaly where the brain surface is abnormally smooth rather than convoluted
A rare disorder characterized by periods of muscle weakness that is not associated with abnormal potassium levels
Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. It causes abnormal development of the retina, the layer of sensory cells that detect light and color, with masses of immature retinal cells accumulating at the back of the eye. As a result, the pupils appear white when light is shone on them, a sign called leukocoria. The irises (colored portions of the eyes) or the entire eyeballs may shrink and deteriorate during the first months of life, and cataracts (cloudiness in the lens of the eye) may eventually develop. About one third of individuals with Norrie disease develop progressive hearing loss, and more than half experience developmental delays in motor skills such as sitting up and walking. Other problems may include mild to moderate intellectual disability, often with psychosis, and abnormalities that can affect circulation, breathing, digestion, excretion, or reproduction.
A rare genetic disorder characterized by an enzyme deficiency (lecithin:cholesterol acyltransferase) which impairs the breakdown of lipoproteins which then builds up and causes damage to tissues. The condition is characterized by corneal disorders, anemia, protein in the urine and ultimately, kidney failure.
A rare sensory nerve disorder involving the nerves radiating from the spine and characterized by areas of skin on the back that suffer itching, burning, lack of sensation and sometimes pigmentation
A very rare syndrome characterized mainly by a birth mark and brain abnormalities
A very rare syndrome characterized mainly underdeveloped lungs and by an abnormal opening in the area of the larynx, trachea and esophagus
A progressive condition characterized by a sac filled with lymphatic fluid that forms in the lymphatic system, usually at the nape of the neck but sometimes in other parts of the body.
is a rare epithelial cancer that usually arises in the midline of the body and is characterized by a mutation in the nuclear protein in testis (NUT) gene. There are only 62 known cases with the tumor being refractory to conventional treatments, with a median survival of 6.7 months and an overall survival of 19% at 2 years.
A X-linked inherited eye disorder characterized by involuntary, rapid eye movement that occurs within the first three months of life. The eye tends to move round and round in circles. The abnormal eye movement stems from a defect in the part of the brain that controls eye movement
A dominantly inherited eye disorder characterized by involuntary, rapid eye movement that occurs within the first three months of life. The eye tends to move horizontally and round and round in circles. The abnormal eye movement stems from a defect in the part of the brain that controls eye movement.
A dominantly inherited eye disorder characterized by involuntary, rapid eye movement that occurs within the first three months of life. The eye tends to move horizontally and round and round in circles. The abnormal eye movement stems from a defect in the part of the brain that controls eye movement
A dominantly inherited eye disorder characterized by involuntary, rapid eye movement that occurs within the first three months of life. The abnormal eye movement stems from a defect in the part of the brain that controls eye movement. This form is also often associated with strabismus
A recessively inherited eye disorder characterized by involuntary, rapid eye movement that occurs within the first three months of life. The abnormal eye movement stems from a defect in the part of the brain that controls eye movement
An inherited condition involving involuntary vertical eye movements.
Nystagmus, myoclonic is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Nystagmus, myoclonic, or a subtype of Nystagmus, myoclonic, affects less than 200,000 people in the US population. Abnormal eye movements caused by the involuntary twitching of the muscles that control eye movement.
A rare eye disorder characterized by early onset of cataracts and an underdeveloped fovea which is responsible for seeing details such as is needed when reading
A rare heart disorder where thickening of parts of the heart (wall separating the heart chambers) reduces the size of heart chambers and hinders the flow of blood.