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What are the treatments for Sturge-Weber syndrome ? | What are some of the benefits and risks of laser treatment for port-wine stains associated with Sturge-Weber syndrome? Pulsed dye laser (PDL) remains the treatment of choice for the majority of children with a port-wine stain (PWS). Laser treatment of port-wine stains may produce good cosmetic results, with a low incid... | |
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 are the symptoms of Microsomia hemifacial radial defects ? | What are the signs and symptoms of Microsomia hemifacial radial defects? The Human Phenotype Ontology provides the following list of signs and symptoms for Microsomia hemifacial radial defects. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | |
What is (are) Congenital mirror movement disorder ? | Congenital mirror movement disorder (CMM) is a rare condition that is characterized by mirror movements (involuntary movements of one side of the body that mirror intentional movements on the opposite side). Affected people generally develop these movements in infancy or early childhood, which usually persist throughou... | |
What are the symptoms of Congenital mirror movement disorder ? | What are the signs and symptoms of Congenital mirror movement disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital mirror movement disorder. 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) Marshall syndrome ? | Marshall syndrome is an inherited condition characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and early-onset arthritis. Those with Marshall syndrome can also have short stature. Some researchers have argued that Marshall syndrome represents a variant form of Stickler syndrome; but this... | |
What are the symptoms of Marshall syndrome ? | What are the signs and symptoms of Marshall syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Marshall 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) Familial hemiplegic migraine type 3 ? | Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and m... | |
What are the symptoms of Familial hemiplegic migraine type 3 ? | What are the signs and symptoms of Familial hemiplegic migraine type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hemiplegic migraine type 3. 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 Bardet-Biedl syndrome 7 ? | What are the signs and symptoms of Bardet-Biedl syndrome 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 7. 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 is (are) Gray zone lymphoma ? | Gray zone lymphoma is a cancer of the immune system. The name of this lymphoma refers to the fact that cancer cells in this condition are in a "gray zone" (an uncertain category) because they appear similar to that of two other types of lymphoma, classical Hodgkin lymphoma and mediastinal large B-cell lymphoma. Becau... | |
What are the treatments for Gray zone lymphoma ? | How might gray zone lymphoma be treated? Gray zone lymphoma shares features with two other types of lymphoma, classical Hodgkin lymphoma (cHL) and mediastinal large B-cell lymphoma (MLBCL). Because MLBCL and cHL are treated differently, it is unclear how gray zone lymphoma should be treated. At this time, there are n... | |
What are the symptoms of Paralysis agitans, juvenile, of Hunt ? | What are the signs and symptoms of Paralysis agitans, juvenile, of Hunt? The Human Phenotype Ontology provides the following list of signs and symptoms for Paralysis agitans, juvenile, of Hunt. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | |
What is (are) Severe intellectual disability-progressive spastic diplegia syndrome ? | Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability . Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity; and/or skin, hair and mild facial... | |
What are the symptoms of Severe intellectual disability-progressive spastic diplegia syndrome ? | What are the signs and symptoms of Severe intellectual disability-progressive spastic diplegia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe intellectual disability-progressive spastic diplegia syndrome. If the information is available, the table below includes how ... | |
What are the symptoms of Epilepsy progressive myoclonic type 3 ? | What are the signs and symptoms of Epilepsy progressive myoclonic type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Epilepsy progressive myoclonic 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) Charcot-Marie-Tooth disease ? | Charcot-Marie-Tooth disease is a group of disorders that affect the peripheral nerves, the nerves running from outside the brain and spine. Defects in many different genes cause different forms of this disease. Common symptoms may include foot drop, foot deformity, loss of lower leg muscle, numbness in the foot or leg,... | |
What are the symptoms of Charcot-Marie-Tooth disease ? | What are the signs and symptoms of Charcot-Marie-Tooth disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth 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 Bone dysplasia lethal Holmgren type ? | What are the signs and symptoms of Bone dysplasia lethal Holmgren type? The Human Phenotype Ontology provides the following list of signs and symptoms for Bone dysplasia lethal Holmgren type. 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) Neuronal ceroid lipofuscinosis ? | Neuronal ceroid lipofuscinosis (NCL) refers to a group of conditions that affect the nervous system. Signs and symptoms vary widely between the forms but generally include a combination of dementia, vision loss, and epilepsy. Although the NCLs were historically classified according to their age of onset and clinical fe... | |
What are the symptoms of Neuronal ceroid lipofuscinosis ? | What are the signs and symptoms of Neuronal ceroid lipofuscinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for 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 use the Med... | |
What are the symptoms of Hirschsprung disease type 3 ? | What are the signs and symptoms of Hirschsprung disease type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Hirschsprung disease type 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 Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech ? | What are the signs and symptoms of Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech. If the information is available, the table below includes how often ... | |
What is (are) Spondylocostal dysostosis 4 ? | Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. T... | |
What are the symptoms of Spondylocostal dysostosis 4 ? | What are the signs and symptoms of Spondylocostal dysostosis 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocostal dysostosis 4. 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 is (are) Subcortical band heterotopia ? | Subcortical band heterotopia, also known as double cortex syndrome, is a condition of abnormal brain development that is present from birth. This condition which primarily affects females, occurs when neurons migrate to an area of the brain where they are not supposed to be (heterotopia), and form abnormal areas that ... | |
What are the symptoms of Subcortical band heterotopia ? | What are the signs and symptoms of Subcortical band heterotopia? The Human Phenotype Ontology provides the following list of signs and symptoms for Subcortical band heterotopia. 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 Amyloidosis familial visceral ? | What are the signs and symptoms of Amyloidosis familial visceral? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyloidosis familial visceral. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... | |
What is (are) Facioscapulohumeral muscular dystrophy ? | Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting (atrophy). This condition gets its name from the areas of the body that are affected most often: muscles in the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral). The signs and symptoms ... | |
What are the symptoms of Facioscapulohumeral muscular dystrophy ? | What are the signs and symptoms of Facioscapulohumeral muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Facioscapulohumeral muscular dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | |
What is (are) Platelet storage pool deficiency ? | Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, ... | |
What are the symptoms of Platelet storage pool deficiency ? | What are the signs and symptoms of Platelet storage pool deficiency? The signs and symptoms of platelet storage pool deficiency vary but may include: Frequent nosebleeds Abnormally heavy or prolonged menstruation Easy bruising Recurrent anemia Abnormal bleeding after surgery, dental work or childbirth The Human Phenoty... | |
What causes Platelet storage pool deficiency ? | What causes platelet storage pool deficiency? Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Some platelet storage pool def... | |
Is Platelet storage pool deficiency inherited ? | Is platelet storage pool deficiency inherited? Platelet storage pool deficiency refers to a group of conditions that can be acquired (non-inherited) or inherited. Hereditary forms of the condition may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. In autosomal dominant conditions, one c... | |
How to diagnose Platelet storage pool deficiency ? | How is platelet storage pool deficiency diagnosed? A diagnosis of platelet storage pool deficiency is often suspected based on the presence of characteristic signs and symptoms. Specialized laboratory tests can then be ordered to confirm the diagnosis. This testing may include: Bleeding time studies Platelet aggregatio... | |
What are the treatments for Platelet storage pool deficiency ? | How might platelet storage pool deficiency be treated? Treatment for platelet storage pool deficiency is symptomatic. For example, people who have severe episodes of bleeding may require platelet transfusions or antifibrinolytic medications, particularly during periods of high risk such as during surgical procedures or... | |
What is (are) Barber Say syndrome ? | Barber Say syndrome is a very rare condition characterized by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It has been described in less than 20 patients in the medical literature. Barber Say syndr... | |
What are the symptoms of Barber Say syndrome ? | What are the signs and symptoms of Barber Say syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Barber Say 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 Dicti... | |
What is (are) Barrett esophagus ? | Barrett esophagus is a condition in which the lining of the esophagus (the tube that carries food from the throat to the stomach) is replaced by tissue that is similar to the lining of the intestines. Although this change does not cause any specific signs or symptoms, it is typically diagnosed in people who have long-t... | |
What are the symptoms of Barrett esophagus ? | What are the signs and symptoms of Barrett esophagus? In people affected by Barrett esophagus, the tissue lining the esophagus (the tube connecting the mouth to the stomach) is replaced by cells that are similar to those found in the lining of the intestines. This change does not cause any specific signs or symptoms. H... | |
What causes Barrett esophagus ? | What causes Barrett esophagus? The exact underlying cause of Barrett esophagus is unknown. However, certain factors are known to increase the risk of developing the condition. These include: Long-standing gastroesophageal reflux disease (GERD) Obesity (specifically high levels of belly fat) Smoking Factors that may dec... | |
Is Barrett esophagus inherited ? | Is Barrett esophagus inherited? Barrett esophagus usually occurs sporadically in people with no family history of the condition. In rare cases, it can affect more than one family member; however, it is unclear whether these cases are due to common environmental exposures or an inherited predisposition (or a combination... | |
How to diagnose Barrett esophagus ? | How is Barrett esophagus diagnosed? Esophagogastroduodenoscopy (EGD) with a biopsy is the procedure of choice for confirming a diagnosis of Barret esophagus. A diagnosis is often made while investigating other conditions such as gastroesophageal reflux disease (GERD). Based on the biopsy, a doctor will be able to deter... | |
What are the treatments for Barrett esophagus ? | How might Barrett esophagus be treated? The treatment of Barrett esophagus largely depends on the severity of the condition as determined by the level of dysplasia seen on biopsy. In people with no dysplasia or low-grade dysplasia, treatment is often focused on easing the signs and symptoms of gastroesophageal reflux d... | |
What is (are) Light chain deposition disease ? | Light chain deposition disease (LCDD) involves the immune system, the body's system of protecting ourselves against infection. The body fights infection with antibodies. Antibodies are made up of small protein segments called light chains and heavy chains. People with LCDD make too many light chains which get deposite... | |
Is Light chain deposition disease inherited ? | Is light chain deposition disease a genetic/inheritable disease? Currently, we are not aware of inherited genes or genetic factors that would increase a persons risk for developing light chain deposition disease. You can read more about risk factors for multiple myeloma and monoclonal gammopathy of undetermined signifi... | |
What are the symptoms of Familial eosinophilia ? | What are the signs and symptoms of Familial eosinophilia? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial eosinophilia. 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 D... | |
What are the symptoms of Absent patella ? | What are the signs and symptoms of Absent patella? The Human Phenotype Ontology provides the following list of signs and symptoms for Absent patella. 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 l... | |
What is (are) EEC syndrome ? | EEC syndrome (Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate) is a rare form of ectodermal dysplasia. The symptoms can vary from mild to severe and most commonly include missing or irregular fingers and/or toes (ectrodactyly or split hand/foot malformation); abnormalities of the hair and glands; cleft lip and/or pa... | |
What are the symptoms of EEC syndrome ? | What are the signs and symptoms of EEC syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for EEC 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 look ... | |
What causes EEC syndrome ? | What causes EEC syndrome? Approximately 90% of individuals with EEC syndrome have a causative mutation identified in the TP63 gene. The TP63 gene codes for the p63 protein, which plays a critical role in early development of the ectoderm-the layers of tissue that develop into the skin, hair, teeth, and nails. The p63 p... | |
Is EEC syndrome inherited ? | How is EEC syndrome inherited? EEC syndrome is inherited in an autosomal dominant manner.This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. In some cases, an affected person inherits the mutated gene from an affected parent. In ... | |
How to diagnose EEC syndrome ? | Is genetic testing available for EEC syndrome? It is estimated that greater than 90% of cases of EEC syndrome are caused by mutations in the TP63 gene. The remainder are suspected to be caused by different mutations in a region on chromosome 7. Genetic testing is available to detect both mutations in the TP63 gene and ... | |
What are the symptoms of Familial erythema nodosum ? | What are the signs and symptoms of Familial erythema nodosum? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial erythema nodosum. 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) Alopecia totalis ? | Alopecia totalis (AT) is a condition characterized by the complete loss of hair on the scalp. It is an advanced form of alopecia areata a condition that causes round patches of hair loss. Although the exact cause of AT is unknown, it is thought to be an autoimmune condition in which the immune system mistakenly attacks... | |
What are the symptoms of Alopecia totalis ? | What are the signs and symptoms of Alopecia totalis? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia totalis. 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 ... | |
What is (are) Pityriasis lichenoides et varioliformis acuta ? | Pityriasis lichenoides et varioliformis acuta (PLEVA) is the acute form of a skin condition called pityriasis lichenoides. Affected people generally develop a few to more than one hundred scaling papules which may become filled with blood and/or pus or erode into crusted red-brown spots. PLEVA generally resolves on its... | |
What are the symptoms of Pityriasis lichenoides et varioliformis acuta ? | What are the signs and symptoms of pityriasis lichenoides et varioliformis acuta? Pityriasis lichenoides et varioliformis acuta (PLEVA) is the acute form of a skin condition called pityriasis lichenoides. It is characterized by the sudden onset of red patches that quickly develop into scaling papules. These papules may... | |
What causes Pityriasis lichenoides et varioliformis acuta ? | What causes pityriasis lichenoides et varioliformis acuta? The exact underlying cause of pityriasis lichenoides et varioliformis acuta (PLEVA) is unknown. Some scientists suspect that it may occur due to an exaggerated immune response or hypersensitivity to an infection. Some of the infections that have been associated... | |
How to diagnose Pityriasis lichenoides et varioliformis acuta ? | How is pityriasis lichenoides et varioliformis acuta diagnosed? A diagnosis of pityriasis lichenoides et varioliformis acuta is often suspected based on characteristic signs and symptoms. A skin biopsy can be used to confirm the diagnosis. Additional laboratory testing may be ordered to investigate a possible cause suc... | |
What are the treatments for Pityriasis lichenoides et varioliformis acuta ? | How might pityriasis lichenoides et varioliformis acuta be treated? Pityriasis lichenoides et varioliformis acuta (PLEVA) often resolves on its own within several weeks to several months. Depending on the severity of the condition and the symptoms present, treatment may not be necessary. If treatment is indicated, ther... | |
What are the symptoms of Peptidic growth factors deficiency ? | What are the signs and symptoms of Peptidic growth factors deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Peptidic growth factors deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | |
What is (are) Dentinogenesis imperfecta type 2 ? | Dentinogenesis imperfecta type 2 is a rare and severe form of dentinogenesis imperfecta, a condition that affects tooth development. People affected by the condition may have weak and discolored teeth. These problems can affect both primary (baby) teeth and permanent teeth. People with this form of dentinogenesis imper... | |
What are the symptoms of Microphthalmia syndromic 5 ? | What are the signs and symptoms of Microphthalmia syndromic 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 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 MedlinePlus... | |
What are the symptoms of Methylmalonic acidemia with homocystinuria ? | What are the signs and symptoms of Methylmalonic acidemia with homocystinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Methylmalonic acidemia with homocystinuria. If the information is available, the table below includes how often the symptom is seen in people with this condit... | |
What are the symptoms of Osteogenesis imperfecta Levin type ? | What are the signs and symptoms of Osteogenesis imperfecta Levin type? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta Levin type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | |
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 is (are) Glutamate formiminotransferase deficiency ? | Glutamate formiminotransferase deficiency is an inherited metabolic disorder that affects physical and mental development. There are two forms of this condition, a mild form and a sever form. People with the mild form have minor delays in physical and mental development and may have mild intellectual disability. They a... | |
What are the symptoms of Glutamate formiminotransferase deficiency ? | What are the signs and symptoms of Glutamate formiminotransferase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Glutamate formiminotransferase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this conditio... | |
What is (are) Galactosialidosis ? | Galactosialidosis is an autosomal recessive lysosomal storage disorder caused by mutations in the CTSA gene. It is characterized by coarse facial features, macular cherry-red spots, angiokeratoma (dark red spots on the skin), vertebral deformities, epilepsy, action myoclonus, and ataxia. There are three different types... | |
What are the symptoms of Galactosialidosis ? | What are the signs and symptoms of Galactosialidosis? The early infantile form of galactosialidosis is associated with hydrops fetalis, inguinal hernia, and hepatosplenomegaly. Additional features include abnormal bone development (dysostosis multiplex) and distinctive facial features that are often described as 'coars... | |
What causes Galactosialidosis ? | What causes galactosialidosis? Galactosialidosis is caused by mutations in the CTSA gene. The CTSA gene provides instructions for making a protein called cathepsin A, which is active in cellular compartments called lysosomes. These compartments contain enzymes that digest and recycle materials when they are no longer n... | |
Is Galactosialidosis inherited ? | How is galactosialidosis inherited? Galactosialidosis is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symp... | |
What are the treatments for Galactosialidosis ? | How might galactosialidosis be treated? There is no cure for galactosialidosis. Treatment is symptomatic and supportive; for example, taking medication to control seizures. Individuals with galactosialidosis are encouraged to routinely see their genetic counselors, neurological, ophthalmological, and other specialists ... | |
What are the symptoms of Hyperlipoproteinemia type 4 ? | What are the signs and symptoms of Hyperlipoproteinemia type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperlipoproteinemia type 4. 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 Spondylometaphyseal dysplasia type A4 ? | What are the signs and symptoms of Spondylometaphyseal dysplasia type A4? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia type A4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | |
What are the symptoms of Pancreatic cancer, childhood ? | What are the signs and symptoms of Pancreatic cancer, childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Pancreatic cancer, childhood. 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) Microcephalic osteodysplastic primordial dwarfism type 2 ? | Microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2) is a condition characterized by short stature (dwarfism), skeletal abnormalities and an unusually small head size (microcephaly). Other signs and symptoms of MOPD2 may include hip dysplasia; thinning of the bones in the arms and legs; scoliosis; shortened... | |
What are the symptoms of Microcephalic osteodysplastic primordial dwarfism type 2 ? | What are the signs and symptoms of Microcephalic osteodysplastic primordial dwarfism type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephalic osteodysplastic primordial dwarfism type 2. If the information is available, the table below includes how often the symptom is see... | |
What is (are) Nance-Horan syndrome ? | Nance-Horan syndrome is a rare genetic disorder that may be evident at birth. It is characterized by teeth abnormalities and cataracts, resulting in poor vision. Additional eye abnormalities are also often present, including a very small cornea and nystagmus. In some cases, the condition may also be associated with phy... | |
What are the symptoms of Nance-Horan syndrome ? | What are the signs and symptoms of Nance-Horan syndrome? The main features of Nance-Horan syndrome include congenital cataracts, dental abnormalities, distinctive facial features, and in some cases, intellectual disability. In affected males, the primary physical characteristic is the presence of dense clouding of the ... | |
What causes Nance-Horan syndrome ? | What causes Nance-Horan syndrome? Nance-Horan syndrome is caused by a mutation in the NHS gene, which is located on the X chromosome. Some patients have losses (deletions) of part of the chromosome X short arm (p) within the region involving the NHS gene and other genes that are located in this region. These patients m... | |
Is Nance-Horan syndrome inherited ? | How is Nance-Horan syndrome inherited? Nance-Horan syndrome is inherited as an X-linked dominant trait. In X-linked dominant inheritance, both males and females can be affected by a condition. However, affected males tend to have more severe features than females. X-linked conditions result from mutations of a gene loc... | |
What are the symptoms of Tuberous sclerosis, type 1 ? | What are the signs and symptoms of Tuberous sclerosis, type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Tuberous sclerosis, 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 the MedlinePlus... | |
What are the symptoms of Acrorenal mandibular syndrome ? | What are the signs and symptoms of Acrorenal mandibular syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrorenal mandibular 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 Medli... | |
What is (are) Noonan syndrome 4 ? | Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndr... | |
What are the symptoms of Noonan syndrome 4 ? | What are the signs and symptoms of Noonan syndrome 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome 4. 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 treatments for Noonan syndrome 4 ? | How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabi... | |
What are the symptoms of Partial agenesis of corpus callosum ? | What are the signs and symptoms of Partial agenesis of corpus callosum? The Human Phenotype Ontology provides the following list of signs and symptoms for Partial agenesis of corpus callosum. 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) Geroderma osteodysplastica ? | Geroderma osteodysplastica is an autosomal recessive disorder characterized by lax, wrinkled skin, loose joints and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia (underdeveloped cheekbones and jaw) and a varia... | |
What are the symptoms of Geroderma osteodysplastica ? | What are the signs and symptoms of Geroderma osteodysplastica? The Human Phenotype Ontology provides the following list of signs and symptoms for Geroderma osteodysplastica. 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) Multiple epiphyseal dysplasia ? | Multiple epiphyseal dysplasia (MED) is a group of disorders of cartilage and bone development, primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of MED, which are distinguished by their patterns of inheritance - autosomal dominant and autosomal recessive. Signs and sym... | |
What are the symptoms of Multiple epiphyseal dysplasia ? | What are the signs and symptoms of Multiple epiphyseal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal 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 Medli... | |
Is Multiple epiphyseal dysplasia inherited ? | How is multiple epiphyseal dysplasia inherited? Multiple epiphyseal dysplasia (MED) may be inherited in an autosomal dominant or autosomal recessive manner depending on the genetic cause. Most cases are autosomal dominant. In autosomal dominant inheritance, having a mutation in only one of the 2 copies of the responsib... | |
What is (are) Osteogenesis imperfecta type III ? | Osteogenesis imperfecta type III (OI type III) is a form of osteogenesis imperfecta, a group of genetic conditions that primarily affect the bones. In OI type III, specifically, a diagnosis can often be made shortly after birth as fractures (broken bones) during the newborn period simply from handling the infant are co... | |
What are the symptoms of Osteogenesis imperfecta type III ? | What are the signs and symptoms of Osteogenesis imperfecta type III? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type III. 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 Dyskeratosis congenita autosomal dominant ? | What are the signs and symptoms of Dyskeratosis congenita autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Dyskeratosis congenita autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this conditio... |
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