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What is (are) Keutel syndrome ? | Keutel syndrome is an inherited condition characterized by cartilage calcification in the ears, nose, larnyx, trachea (voice box), and ribs; pulmonary artery stenoses; brachytelephalangism (short fingers and nails that resemble drumsticks); and facial dysmorphism. Less than 30 cases have been reported in the literature... |
What are the symptoms of Keutel syndrome ? | What are the signs and symptoms of Keutel syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Keutel syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to... |
What is (are) Empty sella syndrome ? | Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turci... |
What are the symptoms of Empty sella syndrome ? | What are the signs and symptoms of Empty sella syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Empty sella syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dic... |
Is Empty sella syndrome inherited ? | Is empty sella syndrome inherited? Empty sella syndrome (ESS) is typically not inherited. We are aware of one report of familial ESS, occurring in a father and two children. Some researchers believe that a defect present at birth may play a role in the development of the condition, but are unsure whether the defect dir... |
What is (are) Lipoic acid synthetase deficiency ? | Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-on... |
What are the symptoms of Lipoic acid synthetase deficiency ? | What are the signs and symptoms of Lipoic acid synthetase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipoic acid synthetase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... |
What is (are) Adult neuronal ceroid lipofuscinosis ? | Adult neuronal ceroid lipofuscinosis is a rare condition that affects the nervous system. Signs and symptoms usually begin around age 30, but they can develop anytime between adolescence and late adulthood. There are two forms of adult neuronal ceroid lipofuscinosis that are differentiated by their underlying genetic c... |
What are the symptoms of Adult neuronal ceroid lipofuscinosis ? | What are the signs and symptoms of Adult neuronal ceroid lipofuscinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Adult neuronal ceroid lipofuscinosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... |
What are the symptoms of Schneckenbecken dysplasia ? | What are the signs and symptoms of Schneckenbecken dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Schneckenbecken dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus M... |
What is (are) Chromosome 4p deletion ? | Chromosome 4p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 4. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occ... |
What are the symptoms of Congenital rubella ? | What are the signs and symptoms of Congenital rubella? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital rubella. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Diction... |
What are the symptoms of Crandall syndrome ? | What are the signs and symptoms of Crandall syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Crandall syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionar... |
What are the symptoms of Chronic myeloid leukemia ? | What are the signs and symptoms of Chronic myeloid leukemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic myeloid leukemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Med... |
What are the symptoms of Retinal cone dystrophy 3A ? | What are the signs and symptoms of Retinal cone dystrophy 3A? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal cone dystrophy 3A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus M... |
What are the symptoms of Van Buchem disease type 2 ? | What are the signs and symptoms of Van Buchem disease type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Van Buchem disease type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus M... |
What is (are) Pigmented purpuric eruption ? | Pigmented purpuric eruption is a condition that causes reddish-brown skin lesions, most commonly on the lower legs. In some cases, the skin lesions cause severe itching. The skin lesions may spread over time, or clear up on their own. The cause of pigmented purpuric eruption is unknown. |
What are the symptoms of Pigmented purpuric eruption ? | What are the signs and symptoms of Pigmented purpuric eruption? Pigmented purpuric eruption is characterized by reddish-brown patches on the skin. These patches result from tiny red dots, sometimes referred to as cayenne pepper spots, which group together to form a flat red patch. Over time, these patches become brown ... |
What causes Pigmented purpuric eruption ? | What causes pigmented purpuric eruption? The cause of pigmented purpuric eruption is unknown. Occasionally, it occurs as a reaction to a medication, food additive, viral infection or following exercise. In rare cases, there appears to be a genetic component. |
What are the treatments for Pigmented purpuric eruption ? | What treatment is available for pigmented purpuric eruption? There is no treatment that has been proven to be beneficial for people with pigmented purpuric eruption. However, some treatments have been reported to improve this condition, including pentoxifylline, aminaphtone, and photochemotherapy (PUVA). |
What are the symptoms of Amelogenesis imperfecta nephrocalcinosis ? | What are the signs and symptoms of Amelogenesis imperfecta nephrocalcinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amelogenesis imperfecta nephrocalcinosis. If the information is available, the table below includes how often the symptom is seen in people with this condition.... |
What is (are) Trichorhinophalangeal syndrome type 3 ? | Trichorhinophalangeal syndrome type 3 (TRPS3), also known as Sugio-Kajii syndrome, is an extremely rare inherited multisystem disorder. TRPS3 is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger ... |
What are the symptoms of Trichorhinophalangeal syndrome type 3 ? | What are the signs and symptoms of Trichorhinophalangeal syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichorhinophalangeal syndrome type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... |
What is (are) Osteogenesis imperfecta ? | Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. People with this condition have bones that break easily, often from little or no trauma. Severity varies among affected people. Multiple fractures are common, and in severe cases, can even occur before birth. Milder cases may inv... |
What are the symptoms of Osteogenesis imperfecta ? | What are the signs and symptoms of Osteogenesis imperfecta? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medic... |
What causes Osteogenesis imperfecta ? | What causes osteogenesis imperfecta? Osteogenesis imperfecta (OI) may be caused by changes (mutations) in any of several genes. OI is most commonly due to a mutation in either the COL1A1 or COL1A2 gene, causing OI types I through IV. These genes play a role in how the body makes collagen, a material that helps to stren... |
Is Osteogenesis imperfecta inherited ? | How is osteogenesis imperfecta inherited? Osteogenesis imperfecta (OI) is most commonly inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause features of OI. The mutated copy of the gene may be inherited from an affected... |
How to diagnose Osteogenesis imperfecta ? | Is genetic testing available for osteogenesis imperfecta? Genetic testing is available for individuals with osteogenesis imperfecta. The rate for detecting mutations in the genes that are responsible for OI varies depending on the type. Carrier testing may be available to relatives of affected individuals if the type o... |
What are the symptoms of Conductive deafness with malformed external ear ? | What are the signs and symptoms of Conductive deafness with malformed external ear? The Human Phenotype Ontology provides the following list of signs and symptoms for Conductive deafness with malformed external ear. If the information is available, the table below includes how often the symptom is seen in people with t... |
What is (are) Factor XIII deficiency ? | Factor XIII deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. Signs and symptoms occur as the result of a deficiency in the blood clotting factor 13, which is responsible for stabilizing the formation of a blood clot. In affected indi... |
What are the symptoms of Factor XIII deficiency ? | What are the signs and symptoms of Factor XIII deficiency? Factor XIII deficiency causes internal bleeding. The blood may seep into surrounding soft tissues several days after trauma, even mild trauma such as a bump or bruise. Pain and swelling may occur at the injury site prior to bleeding. If the bleeding continues, ... |
What are the treatments for Factor XIII deficiency ? | How might factor XIII be treated? The amount of Factor XIII necessary for a normal response to trauma is only about 10 percent of that in the normal plasma. People with Factor XIII deficiency are generally given small infusions of fresh or frozen blood plasma (cryoprecipitates), or Factor XIII concentrates every three ... |
What are the symptoms of Nestor-guillermo progeria syndrome ? | What are the signs and symptoms of Nestor-guillermo progeria syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nestor-guillermo progeria syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... |
What are the symptoms of Chondrodysplasia with joint dislocations, GPAPP type ? | What are the signs and symptoms of Chondrodysplasia with joint dislocations, GPAPP type? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia with joint dislocations, GPAPP type. If the information is available, the table below includes how often the symptom is seen in peo... |
What are the symptoms of Yorifuji Okuno syndrome ? | What are the signs and symptoms of Yorifuji Okuno syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Yorifuji Okuno syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medic... |
What are the symptoms of Glutamine deficiency, congenital ? | What are the signs and symptoms of Glutamine deficiency, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Glutamine deficiency, congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... |
What is (are) Unverricht-Lundborg disease ? | Unverricht-Lundborg disease is an inherited form of progressive myoclonus epilepsy that is characterized by episodes of involuntary muscle jerking or twitching (myoclonus) that increase in frequency and severity over time. Episodes of myoclonus may be brought on by physical exertion, stress, light, or other stimuli. Af... |
What are the symptoms of Unverricht-Lundborg disease ? | What are the signs and symptoms of Unverricht-Lundborg disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Unverricht-Lundborg disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... |
What are the symptoms of Keratolytic winter erythema ? | What are the signs and symptoms of Keratolytic winter erythema? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratolytic winter erythema. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... |
What are the symptoms of Palant cleft palate syndrome ? | What are the signs and symptoms of Palant cleft palate syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Palant cleft palate syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline... |
What are the symptoms of Leber congenital amaurosis 5 ? | What are the signs and symptoms of Leber congenital amaurosis 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline... |
What is (are) Livedoid vasculopathy ? | Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur. Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, ten... |
What are the treatments for Livedoid vasculopathy ? | How might livedoid vasculopathy be treated? Treatment of livedoid vasculopathy aims to reduce pain, ulceration and scarring. General treatment measures may involve protecting the skin from injury and irritants, removing dead tissue from the ulcers, treating infection with antibiotics, elevating legs, compression therap... |
What are the symptoms of 20p12.3 microdeletion syndrome ? | What are the signs and symptoms of 20p12.3 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 20p12.3 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... |
What are the symptoms of Oto-palato-digital syndrome type 1 ? | What are the signs and symptoms of Oto-palato-digital syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Oto-palato-digital syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... |
What are the symptoms of Pituitary hormone deficiency, combined 2 ? | What are the signs and symptoms of Pituitary hormone deficiency, combined 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Pituitary hormone deficiency, combined 2. If the information is available, the table below includes how often the symptom is seen in people with this condition.... |
What are the symptoms of Treacher Collins syndrome 3 ? | What are the signs and symptoms of Treacher Collins syndrome 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Treacher Collins syndrome 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... |
What are the symptoms of Single upper central incisor ? | What are the signs and symptoms of Single upper central incisor? The Human Phenotype Ontology provides the following list of signs and symptoms for Single upper central incisor. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline... |
What is (are) Filippi syndrome ? | Filippi syndrome is an extremely rare genetic condition characterized by a small head (microcephaly), webbing of the fingers and toes (syndactyly), intellectual disability, growth delay, and distinctive facial features (high and broad nasal bridge, thin nostrils, small chin or micrognathia, and a high frontal hairline)... |
What are the symptoms of Filippi syndrome ? | What are the signs and symptoms of Filippi syndrome? Filippi syndrome is characterized by growth delays before and after birth, a low birth weight, and short stature. Affected individuals are also born with abnormalities of the head and facial area (craniofacial abnormalities), resulting in a distinctive facial appeara... |
What are the treatments for Filippi syndrome ? | How might Filippi syndrome be treated? The treatment of Filippi syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of medical professionals who may need to systematically and comprehensively plan an affected child's treatment. ... |
What is (are) Dowling-Degos disease ? | Dowling-Degos disease is a skin condition characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation), particularly in the body's folds and creases. Other features may include dark lesions on the face and back that resemble blackheads, red bumps around the mouth that re... |
What are the symptoms of Dowling-Degos disease ? | What are the signs and symptoms of Dowling-Degos disease? Dowling-Degos disease is characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation), particularly in the body's folds and creases. These skin changes typically first appear in the armpits and groin area and can ... |
What are the treatments for Dowling-Degos disease ? | Is there a medicine that can cure Dowling-Degos disease? There is no cure for Dowling-Degos disease. Many different treatments have been tried for this condition, but none has proven effective in eliminating the symptoms for all patients. Topical retinoic acids, topical steroids, hydroquinone, tretinoin, and systemic r... |
What are the symptoms of Hirschsprung disease polydactyly heart disease ? | What are the signs and symptoms of Hirschsprung disease polydactyly heart disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Hirschsprung disease polydactyly heart disease. If the information is available, the table below includes how often the symptom is seen in people with thi... |
What is (are) Autosomal recessive hyper IgE syndrome ? | Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare primary immunodeficiency syndrome characterized by highly elevated blood levels of immunoglobulin E (IgE), recurrent staphylococcal skin abscesses, and recurrent pneumonia. The same features are also seen in the more frequent autosomal dominant HIES syndro... |
What are the symptoms of Autosomal recessive hyper IgE syndrome ? | What are the signs and symptoms of Autosomal recessive hyper IgE syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive hyper IgE syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... |
What are the symptoms of Camptodactyly syndrome Guadalajara type 3 ? | What are the signs and symptoms of Camptodactyly syndrome Guadalajara type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptodactyly syndrome Guadalajara type 3. If the information is available, the table below includes how often the symptom is seen in people with this conditio... |
What is (are) Brody myopathy ? | Brody disease is a type of myopahty or "disease of muscle." Signs and symptoms include difficulty relaxing muscles and muscle stiffness following exercise. The condition tends to be inherited in an autosomal recessive fashion. Some cases of Brody disease are caused by mutations in a gene called ATP2A1, for other cases ... |
What are the symptoms of Brody myopathy ? | What are the signs and symptoms of Brody myopathy? Symptoms of Brody disease typically begin in childhood. Children with this condition may have a hard time keeping up with their peers in physical activities. They have a difficult time relaxing muscles, first in their arms and legs, but then in their face and trunk. Th... |
What causes Brody myopathy ? | What causes Brody disease? Brody disease can be caused by mutations in the gene ATP2A1. In general, genes contain the information needed to make functional molecules called proteins. These proteins are required for our bodies cells (and ultimately tissues, like our muscles) to work correctly. Gene mutations can result ... |
How to diagnose Brody myopathy ? | How is Brody disease diagnosed? Brody disease is suspected in people with the characteristic symptoms of this disorder (e.g., peudomyotonia, myoglobinuria etc...). In addition, people with this disease may have normal or slightly elevated creatine kinase levels. Click here to learn more about creatine kinase testing. A... |
What are the treatments for Brody myopathy ? | How might Brody disease be treated? There have been case reports describing treatment of Brody disease with the muscle relaxant, dantrolene and with calcium channel blockers with varying success. |
What are the symptoms of Lymphedema and cerebral arteriovenous anomaly ? | What are the signs and symptoms of Lymphedema and cerebral arteriovenous anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Lymphedema and cerebral arteriovenous anomaly. If the information is available, the table below includes how often the symptom is seen in people with this ... |
What are the symptoms of Sonoda syndrome ? | What are the signs and symptoms of Sonoda syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sonoda syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to... |
What is (are) Glioma ? | Glioma refers to a type of brain tumor that develops from the glial cells, which are specialized cells that surround and support neurons (nerve cells) in the brain. It is generally classified based on which type of glial cell is involved in the tumor: Astocytoma - tumors that develop from star-shaped glial cells called... |
What is (are) Prader-Willi syndrome ? | Prader-Willi syndrome (PWS) is a genetic condition that affects many parts of the body. Infants with PWS have severe hypotonia (low muscle tone), feeding difficulties, and slow growth. In later infancy or early childhood, affected children typically begin to eat excessively and become obese. Other signs and symptoms of... |
What are the symptoms of Prader-Willi syndrome ? | What are the signs and symptoms of Prader-Willi syndrome? In infancy, Prader-Willi syndrome (PWS) is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. In later infancy or early childhood, affected children develop an extreme appetite, which leads to overeating an... |
What causes Prader-Willi syndrome ? | What causes Prader-Willi syndrome? Prader-Willi syndrome (PWS) is caused by the loss of active genes in a specific region of chromosome 15. People normally inherit one copy of chromosome 15 from each parent. Some genes on chromosome 15 are only active (or "expressed") on the copy that is inherited from a person's fathe... |
Is Prader-Willi syndrome inherited ? | Is Prader-Willi syndrome inherited? Most cases of Prader-Willi syndrome (PWS) are not inherited and are due to random events during the formation of egg or sperm cells, or in early fetal development. This is usually the case when PWS is caused by a deletion in the paternal chromosome 15, or by maternal uniparental diso... |
How to diagnose Prader-Willi syndrome ? | How is Prader-Willi syndrome diagnosed? There are clinical diagnostic criteria for Prader-Willi syndrome (PWS) that were developed in the past that continue to be useful. These criteria can be viewed on the National Institute of Health's NICHD Web site. However, the current mainstay of a diagnosis when PWS is suspected... |
What are the treatments for Prader-Willi syndrome ? | How might Prader-Willi syndrome be treated? A multidisciplinary team approach is ideal for the treatment of people with Prader-Willi syndrome (PWS). Early diagnosis, early multidisciplinary care, and growth hormone treatment have greatly improved the quality of life of many affected children. In general, management of ... |
What is (are) Osteopetrosis autosomal dominant type 1 ? | Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder ... |
What are the symptoms of Osteopetrosis autosomal dominant type 1 ? | What are the signs and symptoms of Osteopetrosis autosomal dominant type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal dominant type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... |
What is (are) Hemangiopericytoma ? | Hemangiopericytoma is a term used to described a group of tumors that are derived from pericytes, the cells normally arranged along specific types of blood vessels called capillaries and venules. These types of tumors are typically slow-growing, may be either benign (non-cancerous) or malignant (cancerous), and may occ... |
What are the symptoms of Hemangiopericytoma ? | What are the signs and symptoms of Hemangiopericytoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemangiopericytoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Diction... |
What causes Hemangiopericytoma ? | What causes hemangiopericytoma? The cause of the disease is unknown, and no strong clinical data exist to indicate a convincing link to specific causes. Some reports suggest a relationship between hemangiopericytoma and occupational vinyl chloride exposure, as well as exposure to herbicides. |
What are the treatments for Hemangiopericytoma ? | What treatment is available for meningeal hemangiopericytoma? Radical surgical resection with removal of all meningeal attachments is typically the preferred treatment. However this treatment option is generally possible in only 50-67% of patients who have meningeal hemangiopericytoma. Embolization prior to surgery is ... |
What are the symptoms of Paris-Trousseau thrombocytopenia ? | What are the signs and symptoms of Paris-Trousseau thrombocytopenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Paris-Trousseau thrombocytopenia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... |
What are the symptoms of Aphalangia partial with syndactyly and duplication of metatarsal IV ? | What are the signs and symptoms of Aphalangia partial with syndactyly and duplication of metatarsal IV? The Human Phenotype Ontology provides the following list of signs and symptoms for Aphalangia partial with syndactyly and duplication of metatarsal IV. If the information is available, the table below includes how of... |
What are the symptoms of Charcot-Marie-Tooth disease type 2J ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 2J? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2J. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... |
What is (are) Ring chromosome 20 ? | Ring chromosome 20 is a chromosome abnormality that affects the development and function of the brain. People with ring chromosome 20 often have recurrent seizures or epilepsy. Other symptoms might include intellectual disability, behavioral difficulties, growth delay, short stature, a small head (microcephaly), and ch... |
What are the treatments for Ring chromosome 20 ? | How might ring chromosome 20 be treated? Treatment of ring chromosome 20 is typically focused on management of seizures. The seizures associated with ring chromosome 20 do not generally respond well to medications. The treatment that is successful varies from person to person. Broad spectrum AEDs are usually tried firs... |
What is (are) Parkes Weber syndrome ? | Parkes Weber syndrome (PWS) is a rare congenital condition causing an individual to have a large number of abnormal blood vessels. The main characteristics of PWS typically include a capillary malformation on the skin; hypertrophy (excessive growth) of the bone and soft tissue of the affected limb; and multiple arterio... |
What are the symptoms of Parkes Weber syndrome ? | What are the signs and symptoms of Parkes Weber syndrome? Parkes Weber syndrome is characterized by birthmarks caused by capillary malformations on the skin; hypertrophy (excessive growth) of the bone and soft tissue of the affected limb (which may lead to a difference in size between the affected and non-affected limb... |
What are the treatments for Parkes Weber syndrome ? | How might Parkes Weber syndrome be treated? For capillary malformations (such as port wine stains) that are of cosmetic concern, individuals may be referred to a dermatologist. For arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs), the risks and benefits of intervention (i,e, embolization versus surg... |
What are the symptoms of Multicentric osteolysis nephropathy ? | What are the signs and symptoms of Multicentric osteolysis nephropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Multicentric osteolysis nephropathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... |
What are the symptoms of Fuhrmann syndrome ? | What are the signs and symptoms of Fuhrmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fuhrmann syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionar... |
What is (are) Nicolaides-Baraitser syndrome ? | Nicolaides-Baraitser syndrome (NCBRS) is a very rare condition characterized by severe intellectual disability and various physical features. Signs and symptoms may include seizures, short stature, sparse hair, distinctive facial characteristics, short fingers and toes (brachydactyly), and prominent joints in the finge... |
What are the symptoms of Nicolaides-Baraitser syndrome ? | What are the signs and symptoms of Nicolaides-Baraitser syndrome? Nicolaides-Baraitser syndrome (NCBRS) is typically characterized by intellectual disability, seizures, short stature, sparse hair, distinctive facial features, short fingers and toes (brachydactyly), and prominent joints of the fingers and toes (called i... |
What causes Nicolaides-Baraitser syndrome ? | What causes Nicolaides-Baraitser syndrome? Nicolaides-Baraitser syndrome (NCBRS) is caused by mutations in the SMARCA2 gene, which is located on the small arm of chromosome 9. All mutations that have been identified in affected people have been either missense mutations or in-frame deletions. There may be some correlat... |
Is Nicolaides-Baraitser syndrome inherited ? | How is Nicolaides-Baraitser syndrome inherited? Nicolaides-Baraitser syndrome (NCBRS) is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one of the two copies of the responsible gene in each cell is enough to cause features of the condition. All known cases of NCBRS have be... |
What are the symptoms of Microphthalmia syndromic 9 ? | What are the signs and symptoms of Microphthalmia syndromic 9? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 9. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus... |
What is (are) Optic neuritis ? | Optic neuritis is inflammation of the optic nerve, the nerve that carries the visual signal from the eye to the brain. The condition may cause sudden, reduced vision in the affected eye(s). While the cause of optic neuritis is unknown, it has been associated with autoimmune diseases, infections, multiple sclerosis, dru... |
How to diagnose Optic neuritis ? | How is optic neuritis diagnosed? The diagnosis of optic neuritis is usually based on clinical findings and ophthalmologic examination. A careful history, including information about recent illness, fever, or immunizations is helpful. An eye exam should be conducted with assessment of visual acuity, pupil reactions, col... |
What are the symptoms of Fructosuria ? | What are the signs and symptoms of Fructosuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Fructosuria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up... |
What are the symptoms of Bardet-Biedl syndrome 11 ? | What are the signs and symptoms of Bardet-Biedl syndrome 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 11. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Med... |
What are the symptoms of Purpura simplex ? | What are the signs and symptoms of Purpura simplex? The Human Phenotype Ontology provides the following list of signs and symptoms for Purpura simplex. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to... |
What are the symptoms of Woodhouse Sakati syndrome ? | What are the signs and symptoms of Woodhouse Sakati syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Woodhouse Sakati syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus M... |
What is (are) Selective IgM deficiency ? | Selective IgM deficiency or "Selective Immunoglobulin M deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteremia. The disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of IgM, normal levels of o... |
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