Achromatopsia 3 is a congenital, nonprogressive form of blindness. It is sometimes referred to as a rod monochromacy or stationary cone dystrophy. Symptoms are usually present at birth or shortly thereafter. Patients have pendular nystagmus, progressive lens opacities, severe photophobia, 'day' blindness, and, of course, color blindness. High myopia is a feature in some populations. Vision in daylight is often 20/200 or less but vision in dim light is somewhat better. The central scotoma often leads to eccentric fixation.
X-linked incomplete achromatopsia is a rare cone disorder and it is an inherited form of blue color blindness. In this condition both red and green cone sensitivities are absent, however rod function and blue cone sensitivities are present. It is most commonly results either from one of two conditions. The first condition is a deletion of the locus control region (LCR) which is a critical DNA element that lies upstream of the L and M photopigment gene array on the X-chromosome and is necessary for expression of the photopigment genes. The second condition is an inactivating point mutation within the coding sequence of the remaining photopigment gene in an array from which all but one gene has been deleted.
A usually slow-growing malignant tumor that that can occur in various parts of the body but is most often found in the pancreas, salivary glands, palate and upper lip. Symptoms are determined by the size and location of the growth.
The disease presents as a slow growing mass, associated with pain or tenderness in 50% of the cases. Often appears pseudoencapsulated.
Acitretin is an aromatic retinoid analog of vitamin A. Acitretin embryopathy has been known only in fetuses and the cause of this disease is a teratogenic disorder. this disorder is due to to acitretin or etretinate exposure during the first trimester of pregnancy, which leads to risk of fetal malformations.
Ackerman syndrome is a familial syndrome of fused molar roots with a single canal (taurodontism), hypotrichosis, full upper lip without a cupid's bow, thickened and wide philtrum, and occasional juvenile glaucoma. It was described by James L. Ackerman, A. Leon Ackerman, and A. Bernard Ackerman.
It can also refer to interstitial granulomatous dermatitis.
Acoustic neuroma is an uncommon, noncancerous (benign) and usually slow-growing tumor that develops on the main nerve leading from your inner ear to your brain. Because branches of this nerve directly influence your balance and hearing, pressure from an acoustic neuroma can cause hearing loss, ringing in your ear and unsteadiness.
It is also known as vestibular schwannoma and it usually grows slowly or not at all. However, in a few cases, it may grow rapidly and become large enough to press against the brain and interfere with vital functions.
Acquired agranulocytosis is a rare, drug-induced blood disorder that is characterized by a severe reduction in the number of white blood cells (granulocytes) in the circulating blood. The name granulocyte refers to grain-like bodies within the cell.
Acquired amegakaryocytic thrombocytopenia is a rare blood disorder that causes severe thrombocytopenia with no other blood abnormalities and absent, or severely decreased marrow megakaryocytes. It is so named because the level of large bone marrow cells that produce platelets, called megakaryocytes, are significantly lower or absent. The etiology may be immune suppression of megakaryocyte development. It is so named because the level of large bone marrow cells that produce platelets, called megakaryocytes, are significantly lower or absent.
Acquired angioedema (AAE) is a rare condition characterized by recurrent episodes of swelling (edema). Affected people may have swelling of the face, lips, tongue, limbs, and genitals. Sometimes there is abdominal pain due to edema of the gastrointestinal mucosa, and life-threatening edema of the upper respiratory tract. Swelling episodes may be triggered by mild trauma (e.g., dental work), viral illness, cold exposure, pregnancy, ingestion of certain foods, or emotional stress. There are two forms of AAE: type I and type II. AAE type I is most commonly associated with B-cell lymphoproliferative disorders and consumption of C1-INH. AAE type II is an autoimmune condition associated with the presence of an autoantibody against C1-INH. Treatment aims to control episodes and normalize C1-INH levels. When possible, the underlying disorder should be treated.
Acquired hemophilia is a rare but potentially life-threatening bleeding disorder
Hypoprothrombinemia is a blood disorder in which a deficiency of prothrombin (Factor II of the coagulation cascade) results in impaired blood clotting, leading to an increased physiological risk for bleeding, especially in the gastrointestinal system, cranial vault, and superficial integumentary system.
Ichthyosis acquisita or acquired ichthyosis is a disorder clinically and histologically similar to ichthyosis vulgaris. Ichthyosis vulgaris is an inherited skin disorder in which dead skin cells accumulate in thick, dry scales on your skin's surface.
The scales of ichthyosis vulgaris, sometimes called fish scale disease or fish skin disease, can be present at birth, but usually first appear during early childhood. Sometimes, mild cases of ichthyosis vulgaris go undiagnosed because they're mistaken for extremely dry skin.
Most cases of ichthyosis vulgaris are mild, but some are severe. Sometimes other skin diseases, such as the allergic skin condition eczema, are associated with ichthyosis vulgaris. No cure has been found for ichthyosis vulgaris, and treatments focus on controlling the condition.
A deficiency of prothrombin (vital for blood clotting) which is acquired through other conditions such as liver disease, anticoagulant drugs or vitamin K deficiency. The severity of symptoms is determined by the degree of deficiency.
Intracranial haemorrhage is a serious problem in haemostatic disorders in children. Intracranial bleeding is sometimes more marked than suspected clinically.
A rare disorder characterized by hand and foot defects as well as a congenital form of anemia characterized by the production of abnormal red blood cells.
Acral lentiginous melanoma is observed on the palms, soles and under the nails. It occurs on non hair-bearing surfaces of the body which may or may not be exposed to sunlight. It is also found on mucous membranes. Unlike other forms of melanoma, acral lentiginous melanoma does not appear to be linked to sun exposure.
A rare inherited form of dwarfism characterized mainly by shortening of the middle and end parts of the limbs.
Acro–dermato–ungual–lacrimal–tooth syndrome is a rare genetic disease and it is an autosomal dominant form ofectodermal dysplasia, a group of disorders that affects the hair, teeth, nails, sweat glands, and extremities. The syndrome arises from a mutation in the TP63 gene. This disease was previously thought to be a form of ectrodactyly–ectodermal dysplasia–cleft syndrome (EEC), but was classified as a different disease in 1993 by Propping and Zerres.
A rare syndrome characterized by short digits, absent chest muscles and absent or underdeveloped kidneys
Acrocallosal syndrome is a rare autosomal recessive syndrome characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation, and other symptoms. The syndrome was first described by Albert Schinzel in 1979. It is associated with GLI3.
Polydactyly is defined as duplication of a finger or part of it. It occurs as an isolated malformation, in association with other malformations of the hands and/or feet, or as a part of a syndrome. Sporadic as well as familial occurrence have been described. In the latter it is usually inherited as an autosomal dominant trait.
A rare syndrome characterized by a pointy skull, narrowed pulmonary valve and mental retardation
Acrodermatitis is a childhood skin condition that may be accompanied by mild symptoms of fever and malaise. It may also be associated with hepatitis B and other viral infections.
It is a diffuse chronic skin disease usually confined to the limbs and characterized initially by an erythematous, oedematous, pruritic phase followed by sclerosis and atrophy. It is caused by infection with Borrelia burgdorferi.
Acrodermatitis enteropathica is an autosomal recessive metabolic disorder affecting the uptake of zinc, characterized by periorificial (around the natural orifices) and acral (in the limbs) dermatitis, alopecia (loss of hair), and diarrhea. It can either be inherited or acquired. Both forms lead to the inability to absorb zinc from the intestine. The lack of zinc can cause skin inflammation with a rash (pustular dermatitis) around the mouth and/or anus; diarrhea; and abnormal nails (nail dystrophy). Irritability and emotional disturbances can also occur.
Similar features may be present in acquired zinc deficiency. This disease also is related to deficiency of zinc due to congenital causes.
Acrodysostosis is a rare congenital malformation syndrome which involves shortening of the interphalangeal joints of the hands and feet, intellectual disability in approximately 90% of affected children, and peculiar facies. Other common abnormalities include short head (as measured front to back), small broad upturned nose with flat nasal bridge, protruding jaw, increased bone age, intrauterine growth retardation, juvenile arthritis and short stature. Further abnormalities of the skin, genitals, teeth, and skeleton may occur. Many individuals with acrodysostosis have developmental delays and intellectual disability. Acrodysostosis can be difficult to distinguish from pseudohypoparathyroidism and pseudopseudohypoparathyroidism.
Most reported cases have been sporadic, but it has been suggested that the condition might be genetically related i.e. in an autosomal dominant mode of transmission. Both males and females are affected. The disorder has been associated with the older age of parents at the time of conception.
A rare inherited genetic disorder characterized by short fingers and toes, scoliosis, carpal synostosis (fused bones of the wrist). and other spine anomalies. Acrodysostosis is an extremely rare congenital (present at birth) disorder marked by problems in the bones of the hands, feet, and nose, and mental retardation. Acrodysplasia scoliosis is a rare condition that has been reported in two brothers.
A rare inherited disorder characterized by short stature, underdeveloped calf bones and abnormalities of the hand and foot bones.
A rare disorder characterized mainly by ambiguous genitals and abnormal development of bones in the face, jaw, hands and feet
A rare genetic disorder characterized by absence of some fingers and toes and characteristic facial features
One of a group of disorders characterized by defective limb and facial development and the Catania form is very rare.
Nager acrofacial dysostosis is a genetic disorder that affects the limbs and face. The signs and symptoms of Nager acrofacial dysostosis vary among affected individuals, even among those in the same family.