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What are the symptoms of Brachydactyly type A5 ? | What are the signs and symptoms of Brachydactyly type A5? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type A5. 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... | Brachydactyly type A5 |
What is (are) Hereditary cerebral hemorrhage with amyloidosis ? | Cerebral amyloid angiopathy (CAA) is a neurological condition in which amyloid protein is deposited onto the walls of the arteries of the brain (and less frequently, veins). Although CAA often does not cause symptoms, it may cause bleeding into the brain (hemorrhagic stroke), dementia, or neurologic episodes in some p... | Hereditary cerebral hemorrhage with amyloidosis |
What are the symptoms of Hereditary cerebral hemorrhage with amyloidosis ? | What symptoms may be associated with hereditary cerebral hemorrhage with amyloidosis - Dutch type? Approximately 87% of individuals with hereditary cerebral hemorrhage with amyloidosis - Dutch type have intracranial hemorrhage (bleeding in the brain) and 13% have infarcts (stroke). The first stroke usually occurs betwe... | Hereditary cerebral hemorrhage with amyloidosis |
What causes Hereditary cerebral hemorrhage with amyloidosis ? | What causes hereditary cerebral hemorrhage with amyloidosis - Dutch type? The clinical symptoms of hereditary cerebral hemorrhage with amyloidosis - Dutch type are caused by the build-up of a protein called amyloid within the arterial walls of the brain. This protein build-up causes bleeding into the brain. The symptom... | Hereditary cerebral hemorrhage with amyloidosis |
Is Hereditary cerebral hemorrhage with amyloidosis inherited ? | Since I have a family history of hereditary cerebral hemorrhage with amyloidosis, what are the chances that I inherited the condition? To find out your chances of having hereditary cerebral hemorrhage with amyloidosis, you may want to speak with a genetics professional. A genetics professionl can review your medical an... | Hereditary cerebral hemorrhage with amyloidosis |
What are the treatments for Hereditary cerebral hemorrhage with amyloidosis ? | How might hereditary cerebral hemorrhage with amyloidosis - Dutch type be treated? There is no known effective treatment for hereditary cerebral hemorrhage with amyloidosis - Dutch type. Treatment is supportive and based on the control of symptoms. In some cases, rehabilitation is needed for weakness or clumsiness. Thi... | Hereditary cerebral hemorrhage with amyloidosis |
What is (are) Diffuse idiopathic skeletal hyperostosis ? | Diffuse idiopathic skeletal hyperostosis (DISH) is a form of degenerative arthritis in which the ligaments (connective tissues that connect bones) around the spine turn into bone. Many people with this condition do not experience any symptoms. When present, the most common features are pain and stiffness of the upper b... | Diffuse idiopathic skeletal hyperostosis |
What are the symptoms of Diffuse idiopathic skeletal hyperostosis ? | What are the signs and symptoms of Diffuse idiopathic skeletal hyperostosis? Many people affected by diffuse idiopathic skeletal hyperostosis (DISH) have no signs or symptoms of the condition. When present, symptoms vary but many include: Stiffness which is most noticeable in the morning Pain when pressure is applied t... | Diffuse idiopathic skeletal hyperostosis |
What causes Diffuse idiopathic skeletal hyperostosis ? | What causes diffuse idiopathic skeletal hyperostosis ? The exact underlying cause of diffuse idiopathic skeletal hyperostosis (DISH) is poorly understood. However, several factors have been associated with an increased risk of developing the condition. For example, conditions that disturb cartilage metabolism (such as ... | Diffuse idiopathic skeletal hyperostosis |
How to diagnose Diffuse idiopathic skeletal hyperostosis ? | How is diffuse idiopathic skeletal hyperostosis diagnosed? A diagnosis of diffuse idiopathic skeletal hyperostosis (DISH) is often suspected based on the presence of characteristic signs and symptoms. X-rays may then be ordered to confirm the diagnosis. In some cases, a computed tomography (CT scan) and/or magnetic res... | Diffuse idiopathic skeletal hyperostosis |
What are the treatments for Diffuse idiopathic skeletal hyperostosis ? | How might diffuse idiopathic skeletal hyperostosis be treated? Treatment of diffuse idiopathic skeletal hyperostosis (DISH) is focused on the signs and symptoms present in each person. For example, pain caused by DISH is often treated with pain relievers, such as acetaminophen (Tylenol, others) or nonsteroidal anti-inf... | Diffuse idiopathic skeletal hyperostosis |
What is (are) Nuclear Gene-Encoded Leigh Syndrome ? | Nuclear gene-encoded Leigh syndrome is a progressive neurological disease. It usually first becomes apparent in infancy with developmental delay or regression. Rarely, the disease begins in adolescence or adulthood. Symptoms progress to include generalized weakness, lack of muscle tone, spasticity, movement disorders, ... | Nuclear Gene-Encoded Leigh Syndrome |
What are the symptoms of Metaphyseal chondrodysplasia Spahr type ? | What are the signs and symptoms of Metaphyseal chondrodysplasia Spahr type? The Human Phenotype Ontology provides the following list of signs and symptoms for Metaphyseal chondrodysplasia Spahr type. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | Metaphyseal chondrodysplasia Spahr type |
What are the symptoms of Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia ? | What are the signs and symptoms of Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia. If the information is available, the table below includes how often the symptom is s... | Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia |
What is (are) Cor triatriatum ? | Cor triatriatum is an extremely rare congenital (present at birth) heart defect. The human heart normally has four chambers, two ventricles and two atria. The two atria are normally separated from each other by a partition called the atrial septum and the two ventricles by the ventricle septum. In cor triatriatum there... | Cor triatriatum |
What is (are) Chondrocalcinosis 2 ? | Chondrocalcinosis 2 is a rare condition characterized by the accumulation of calcium pyrophosphate dihydrate crystals in and around the joints. A buildup of these crystals can lead to progressive (worsening over time) joint damage. Some affected people may not have any signs or symptoms of the condition. Others experie... | Chondrocalcinosis 2 |
What are the symptoms of Chondrocalcinosis 2 ? | What are the signs and symptoms of Chondrocalcinosis 2? The signs and symptoms of chondrocalcinosis 2 vary from person to person. Some affected people may not have any symptoms of the condition aside from the appearance of calcium deposits on joint x-rays. Others experience chronic pain in affected joints and/or the ba... | Chondrocalcinosis 2 |
What causes Chondrocalcinosis 2 ? | What causes chondrocalcinosis 2? Chondrocalcinosis 2 is caused by changes (mutations) in the ANKH gene. This gene encodes a protein that helps transport pyrophosphate (a substance that regulates bone formation). Mutations in ANKH can cause high levels of pyrophosphate and calcium pyrophosphate dihydrate crystals to acc... | Chondrocalcinosis 2 |
Is Chondrocalcinosis 2 inherited ? | Is chondrocalcinosis 2 inherited? Chondrocalcinosis 2 is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may r... | Chondrocalcinosis 2 |
How to diagnose Chondrocalcinosis 2 ? | How is chondrocalcinosis 2 diagnosed? A diagnosis of chondrocalcinosis 2 is often suspected based on characteristic signs and symptoms. Specialized testing, such as synovial fluid analysis, can then be ordered to confirm the diagnosis. In synovial fluid analysis, a small sample of the fluid that surrounds affected join... | Chondrocalcinosis 2 |
What are the treatments for Chondrocalcinosis 2 ? | How might chondrocalcinosis 2 be treated? There is currently no cure for chondrocalcinosis 2. Unfortunately, the accumulation of calcium pyrophosphate dihydrate crystals can not be prevented and once present, these crystals can not be removed from affected joints. Therapies are available to manage the signs and symptom... | Chondrocalcinosis 2 |
What are the symptoms of Hirschsprung disease type d brachydactyly ? | What are the signs and symptoms of Hirschsprung disease type d brachydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Hirschsprung disease type d brachydactyly. If the information is available, the table below includes how often the symptom is seen in people with this conditio... | Hirschsprung disease type d brachydactyly |
What are the symptoms of Raine syndrome ? | What are the signs and symptoms of Raine syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Raine 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 l... | Raine syndrome |
What is (are) Sturge-Weber syndrome ? | Sturge-Weber syndrome is a rare disorder that is present at birth. Affected individuals have a large port-wine stain birthmark on their face, which is caused by blood vessel abnormalities. People with Sturge-Weber syndrome also develop blood vessel abnormalities in the brain called leptomeningeal angiomas. Other featur... | Sturge-Weber syndrome |
What are the symptoms of Sturge-Weber syndrome ? | What are the signs and symptoms of Sturge-Weber syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sturge-Weber 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 D... | Sturge-Weber syndrome |
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... | Sturge-Weber syndrome |
What are the symptoms of Rhizomelic dysplasia Patterson Lowry type ? | What are the signs and symptoms of Rhizomelic dysplasia Patterson Lowry type? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhizomelic dysplasia Patterson Lowry type. If the information is available, the table below includes how often the symptom is seen in people with this conditio... | Rhizomelic dysplasia Patterson Lowry type |
What is (are) Progeria ? | Progeria is a rare condition characterized by dramatic, rapid aging beginning in childhood. Affected newborns usually appear normal but within a year, their growth rate slows significantly. Affected children develop a distinctive appearance characterized by baldness, aged-looking skin, a pinched nose, and a small face ... | Progeria |
What are the symptoms of Progeria ? | What are the signs and symptoms of Progeria? The Human Phenotype Ontology provides the following list of signs and symptoms for Progeria. 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 the d... | Progeria |
What causes Progeria ? | What genes are related to Hutchinson-Gilford progeria syndrome? Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome. The LMNA gene provides instructions for making a protein called lamin A. This protein plays an important role in determining the shape of the nucleus within cells. It is an essential sc... | Progeria |
What are the treatments for Progeria ? | How might progeria be treated? Management for progeria generally focuses on the signs and symptoms of the condition and may include the following: Exercise, diet modification, and medication when the lipid profile becomes abnormal Frequent small meals to maximize caloric intake Oral hydration Use of shoe pads for foot ... | Progeria |
What are the symptoms of Faciomandibular myoclonus, nocturnal ? | What are the signs and symptoms of Faciomandibular myoclonus, nocturnal? The Human Phenotype Ontology provides the following list of signs and symptoms for Faciomandibular myoclonus, nocturnal. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | Faciomandibular myoclonus, nocturnal |
What is (are) Peyronie disease ? | Peyronie disease is a connective tissue disorder characterized by a plaque, or hard lump, that forms within the penis. Affected individuals may experience painful, curved erections which can make make normal sexual intercourse impossible. Symptoms may appear suddenly or develop gradually. While the painful erections fo... | Peyronie disease |
What are the symptoms of Peyronie disease ? | What are the signs and symptoms of Peyronie disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Peyronie 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 MedlinePlus Medical Dictionary ... | Peyronie disease |
What are the symptoms of Spastic paraplegia 18 ? | What are the signs and symptoms of Spastic paraplegia 18? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 18. 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... | Spastic paraplegia 18 |
What are the symptoms of Hereditary congenital facial paresis ? | What are the signs and symptoms of Hereditary congenital facial paresis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary congenital facial paresis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | Hereditary congenital facial paresis |
What is (are) Bethlem myopathy ? | Bethlem myopathy is an inherited movement disorder characterized by progressive muscle weakness and joint stiffness (contractures) in the fingers, wrists, elbows, and ankles. Due to a progressive course, up to two-thirds of people with this condition require a walker or wheelchair after the age of 50. Bethlem myopathy ... | Bethlem myopathy |
What are the symptoms of Bethlem myopathy ? | What are the signs and symptoms of Bethlem myopathy? Bethlem myopathy mainly affects skeletal muscles, the muscles used for movement. People with this condition experience progressive muscle weakness and develop joint stiffness (contractures) in their fingers, wrists, elbows, and ankles. The features of Bethlem myopath... | Bethlem myopathy |
What causes Bethlem myopathy ? | What causes Bethlem myopathy? Bethlem myopathy is caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. These genes each provide instructions for making one component of a protein called type VI collagen. This protein plays an important role in muscle, particularly skeletal muscle. Type VI collagen makes up part... | Bethlem myopathy |
Is Bethlem myopathy inherited ? | How is Bethlem myopathy inherited? Bethlem myopathy is typically inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. IN... | Bethlem myopathy |
What are the treatments for Bethlem myopathy ? | How might Bethlem myopathy be treated? The treatment for Behtlem myopathy is symptomatic and supportive. This means that treatment is directed at the individual symptoms that are present in each case. There is no cure. In most cases, physical therapy, stretching exercises, splinting, and/or mobility aids are employed. ... | Bethlem myopathy |
What is (are) Emanuel syndrome ? | Emanuel syndrome is a chromosome disorder that causes problems with physical and intellectual development. Signs and symptoms can vary but may include severe intellectual disability; small head size (microcephaly); failure to thrive; cleft palate or high-arched palate; small jaw (micrognathia); congenital heart defects... | Emanuel syndrome |
What are the symptoms of Emanuel syndrome ? | What are the signs and symptoms of Emanuel syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Emanuel 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 ... | Emanuel syndrome |
What are the symptoms of Cataract, autosomal recessive congenital 2 ? | What are the signs and symptoms of Cataract, autosomal recessive congenital 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract, autosomal recessive congenital 2. If the information is available, the table below includes how often the symptom is seen in people with this condit... | Cataract, autosomal recessive congenital 2 |
What are the symptoms of Immunoglobulin A deficiency 2 ? | What are the signs and symptoms of Immunoglobulin A deficiency 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Immunoglobulin A deficiency 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 Medli... | Immunoglobulin A deficiency 2 |
What is (are) Juvenile myoclonic epilepsy ? | Juvenile myoclonic epilepsy is an epilepsy syndrome characterized by myoclonic jerks (quick jerks of the arms or legs), generalized tonic-clonic seizures (GTCSs), and sometimes, absence seizures. The seizures of juvenile myoclonic epilepsy often occur when people first awaken in the morning. Seizures can be triggered b... | Juvenile myoclonic epilepsy |
What causes Juvenile myoclonic epilepsy ? | What causes juvenile myoclonic epilepsy? The exact cause of juvenile myoclonic epilepsy remains unknown. It is not associated with conditions such as head trauma, brain tumor, or encephalitis. Several families have specific mutations in various genes and a complex mode of inheritance. In individuals with juvenile myocl... | Juvenile myoclonic epilepsy |
Is Juvenile myoclonic epilepsy inherited ? | Is juvenile myoclonic epilepsy inherited? If I have juvenile myoclonic epilepsy, will my children also have it? Juvenile myoclonic epilepsy is an inherited disorder (about a third of patients with this condition have a positive family history of epilepsy), but the exact mode of inheritance is not clear. A number of stu... | Juvenile myoclonic epilepsy |
What are the treatments for Juvenile myoclonic epilepsy ? | How might juvenile myoclonic epilepsy be treated? Avoidance of precipitating events such as alcohol use and sleep deprivation may be useful but is not sufficient to control the seizures of juvenile myoclonic epilepsy. Medical therapy with anticonvulsants is typically needed and well tolerated. The majority of patients ... | Juvenile myoclonic epilepsy |
What is (are) Hansen's disease ? | Hansen's disease (also known as leprosy) is a rare bacterial infection that affects the skin, nerves and mucous membranes. After exposure, it may take anywhere from 2 to 10 years to develop features of the condition. Once present, common signs and symptoms include skin lesions; muscle weakness or paralysis; eye problem... | Hansen's disease |
What is (are) Pineocytoma ? | A pineocytoma is a tumor of the pineal gland, a small organ in the brain that makes melatonin (a sleep-regulating hormone). Pineocytomas most often occur in adults as a solid mass, although they may appear to have fluid-filled (cystic) spaces on images of the brain. Signs and symptoms of pineocytomas include headaches,... | Pineocytoma |
What are the treatments for Pineocytoma ? | How might a pineocytoma be treated? Because pineocytomas are quite rare, there are no consensus guidelines on the best treatment for these tumors. However, surgery to remove the entire tumor is considered the standard treatment. Because these tumors are located deep in the brain, it is important that the risks of surge... | Pineocytoma |
What is (are) Encephalocele ? | Encephaloceles are rare neural tube defects characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development. The result is a groove down the midline of the upper part of ... | Encephalocele |
What are the symptoms of Deafness, autosomal dominant nonsyndromic sensorineural 23 ? | What are the signs and symptoms of Deafness, autosomal dominant nonsyndromic sensorineural 23? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, autosomal dominant nonsyndromic sensorineural 23. If the information is available, the table below includes how often the symptom is... | Deafness, autosomal dominant nonsyndromic sensorineural 23 |
What is (are) Transposition of the great arteries ? | Transposition of the great arteries (TGA) is a type of congenital heart defect in which there is a reversal of the normal connections of the aorta and the pulmonary artery with the heart. The aorta and pulmonary artery are reversed, which causes oxygen-poor blood to be circulated to the body and oxygen-rich blood to be... | Transposition of the great arteries |
What are the symptoms of Transposition of the great arteries ? | What are the signs and symptoms of Transposition of the great arteries? The Human Phenotype Ontology provides the following list of signs and symptoms for Transposition of the great arteries. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | Transposition of the great arteries |
What causes Transposition of the great arteries ? | What causes transposition of the great arteries (TGA)? The exact cause of TGA remains unknown. Some possible associated risk factors that have been proposed include gestational diabetes mellitus, maternal exposure to rodenticides and herbicides, and maternal use of anti-epileptic drugs. Changes (mutations) in specific ... | Transposition of the great arteries |
What is (are) Ornithine transcarbamylase deficiency ? | Ornithine transcarbamylase (OTC) deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. The signs and symp... | Ornithine transcarbamylase deficiency |
What are the symptoms of Ornithine transcarbamylase deficiency ? | What are the signs and symptoms of Ornithine transcarbamylase deficiency? Ornithine transcarbamylase (OTC) deficiency often becomes evident in the first few days of life. An infant with OTC deficiency may be lacking in energy (lethargic) or unwilling to eat, and have a poorly-controlled breathing rate or body temperatu... | Ornithine transcarbamylase deficiency |
What causes Ornithine transcarbamylase deficiency ? | What causes ornithine transcarbamylase (OTC) deficiency? Ornithine transcarbamylase (OTC) deficiency is caused by mutations in the OTC gene. OTC deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. It processes excess nitrog... | Ornithine transcarbamylase deficiency |
Is Ornithine transcarbamylase deficiency inherited ? | How is ornithine transcarbamylase (OTC) deficiency inherited? Ornithine transcarbamylase (OTC) deficiency is an X-linked disorder. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. A characteristic of X-linked inheritance is t... | Ornithine transcarbamylase deficiency |
What is (are) Hydatidiform mole ? | Molar pregnancy is a condition in which the placenta does not develop properly. The symptoms of molar pregnancy, which may include vaginal bleeding, severe morning sickness, stomach cramps, and high blood pressure, typically begin around the 10th week of pregnancy. Because the embryo does not form or is malformed in mo... | Hydatidiform mole |
What are the symptoms of Hydatidiform mole ? | What are the signs and symptoms of Hydatidiform mole? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydatidiform mole. 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... | Hydatidiform mole |
What is (are) Achondroplasia ? | Achondroplasia is a disorder of bone growth that prevents the changing of cartilage (particularly in the long bones of the arms and legs) to bone. It is characterized by dwarfism, limited range of motion at the elbows, large head size, small fingers, and normal intelligence. Achondroplasia can cause health complication... | Achondroplasia |
What are the symptoms of Achondroplasia ? | What are the signs and symptoms of Achondroplasia? In babies, apnea occurs when breathing stops for more than 15 seconds. Snoring is often a sign of apnea, however most children with achondroplasia snore. Obstructive apnea or disordered breathing in sleep may be suspected if the child has increased retraction, glottal ... | Achondroplasia |
What causes Achondroplasia ? | What causes achondroplasia? Achondroplasia is caused by mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Two specific mutations in the FGFR3 gene are responsible for almost all cases of achondroplasia. Researc... | Achondroplasia |
Is Achondroplasia inherited ? | Is achondroplasia inherited? Most cases of achondroplasia are not inherited. When it is inherited, it follows an autosomal dominant pattern of inheritance. About 80% of individuals who have achondroplasia have parents with normal stature and are born with the condition as a result of a new (de novo) gene alteration (mu... | Achondroplasia |
What are the treatments for Achondroplasia ? | How might children with achondroplasia be treated? Recommendations for management of children with achondroplasia were outlined by the American Academy of Pediatrics Committee on Genetics in the article, Health Supervision for Children with Achondroplasia. We recommend that you review this article with your childs heal... | Achondroplasia |
What is (are) Book syndrome ? | Book syndrome is a very rare type of ectodermal dysplasia. Signs and symptoms include premolar aplasia (when the premolars fail to develop); excessive sweating (hyperhidrosis); and premature graying of the hair. Other features that have been reported in only one person include a narrow palate (roof of the mouth); hypop... | Book syndrome |
What are the symptoms of Book syndrome ? | What are the signs and symptoms of Book syndrome? To our knowledge, Book syndrome has only been reported in one, large Swedish family (25 cases in 4 generations) and in one other isolated case. The signs and symptoms reported in the Swedish family included premolar aplasia (when the premolars fail to develop); excessiv... | Book syndrome |
Is Book syndrome inherited ? | How is Book syndrome inherited? To our knowledge, Book syndrome has only been reported in one, large Swedish family (25 cases in 4 generations) and in one other isolated case. In the Swedish family, the syndrome was inherited in an autosomal dominant manner. In autosomal dominant inheritance, having a mutation in only ... | Book syndrome |
How to diagnose Book syndrome ? | How is Book syndrome diagnosed? Due to the rarity of Book syndrome and scarcity of reports in the medical literature, we are unaware of specific information about diagnosing Book syndrome. In general, ectodermal dysplasias are diagnosed by the presence of specific symptoms affecting the hair, nails, sweat glands, and/o... | Book syndrome |
What are the symptoms of Anauxetic dysplasia ? | What are the signs and symptoms of Anauxetic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Anauxetic 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 Medical Dicti... | Anauxetic dysplasia |
What are the symptoms of Small patella syndrome ? | What are the signs and symptoms of Small patella syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Small patella 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... | Small patella syndrome |
What is (are) MECP2 duplication syndrome ? | MECP2 duplication syndrome is a genetic condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Other signs and symptoms include infantile hypotonia; delayed motor milestones (i.e. sitting up, crawling); recurrent infections; poor or absent speech; seizures;... | MECP2 duplication syndrome |
What are the symptoms of MECP2 duplication syndrome ? | What are the signs and symptoms of MECP2 duplication syndrome? MECP2 duplication syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Infants affected by this condition are generally diagnosed with severe hypotonia within the first few weeks... | MECP2 duplication syndrome |
What causes MECP2 duplication syndrome ? | What causes MECP2 duplication syndrome? MECP2 duplication syndrome occurs when there is an extra copy (duplication) of the MECP2 gene in each cell. This is generally caused by a duplication of genetic material located on the long (q) arm of the X chromosome. The size of the duplication can vary; however, this does not ... | MECP2 duplication syndrome |
Is MECP2 duplication syndrome inherited ? | Is MECP2 duplication syndrome inherited? MECP2 duplication syndrome is inherited in an X-linked manner. A condition is considered X-linked if the genetic change that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). In males (who have onl... | MECP2 duplication syndrome |
How to diagnose MECP2 duplication syndrome ? | How is MECP2 duplication syndrome diagnosed? A diagnosis of MECP2 duplication syndrome is often suspected based on the presence of characteristic signs and symptoms. Genetic testing can then be ordered to confirm the diagnosis. | MECP2 duplication syndrome |
What are the treatments for MECP2 duplication syndrome ? | How might MECP2 duplication syndrome be treated? Because MECP2 duplication syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based on the signs and symptoms present in each person. For ex... | MECP2 duplication syndrome |
What are the symptoms of Oral submucous fibrosis ? | What are the signs and symptoms of Oral submucous fibrosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Oral submucous fibrosis. 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... | Oral submucous fibrosis |
What is (are) Sertoli cell-only syndrome ? | Sertoli cell-only syndrome (SCO syndrome) is a condition of the testes that causes infertility in males due to having only Sertoli cells (cells that nurture immature sperm) lining the seminiferous tubules (tubes inside the testicles where sperm develop). Men typically learn they are affected between ages 20-40 when bei... | Sertoli cell-only syndrome |
What are the symptoms of Sertoli cell-only syndrome ? | What are the signs and symptoms of Sertoli cell-only syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sertoli cell-only 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... | Sertoli cell-only syndrome |
What are the symptoms of Early infantile epileptic encephalopathy 25 ? | What are the signs and symptoms of Early infantile epileptic encephalopathy 25? The Human Phenotype Ontology provides the following list of signs and symptoms for Early infantile epileptic encephalopathy 25. If the information is available, the table below includes how often the symptom is seen in people with this cond... | Early infantile epileptic encephalopathy 25 |
What is (are) Twin twin transfusion syndrome ? | Twin-to-twin transfusion syndrome is a rare condition that occurs when blood moves from one identical twin (the donor twin) to the other (the recipient twin) while in the womb. The donor twin may be born smaller, with paleness, anemia, and dehydration. The recipient twin may be born larger, with redness, too much blood... | Twin twin transfusion syndrome |
What is (are) Chondrodysplasia punctata 2 X-linked dominant ? | X-linked dominant chondrodysplasia punctata (CDPX2), also known as Conradi-Hnermann-Happle syndrome, is a rare form of skeletal dysplasia characterized by skeletal malformations, skin abnormalities, cataracts and short stature. The specific symptoms and severity of the disorder may vary greatly from one individual to a... | Chondrodysplasia punctata 2 X-linked dominant |
What are the symptoms of Chondrodysplasia punctata 2 X-linked dominant ? | What are the signs and symptoms of Chondrodysplasia punctata 2 X-linked dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia punctata 2 X-linked dominant. If the information is available, the table below includes how often the symptom is seen in people with this ... | Chondrodysplasia punctata 2 X-linked dominant |
What are the symptoms of Chang Davidson Carlson syndrome ? | What are the signs and symptoms of Chang Davidson Carlson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chang Davidson Carlson 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 M... | Chang Davidson Carlson syndrome |
What are the symptoms of Dyssynergia cerebellaris myoclonica ? | What are the signs and symptoms of Dyssynergia cerebellaris myoclonica? The Human Phenotype Ontology provides the following list of signs and symptoms for Dyssynergia cerebellaris myoclonica. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | Dyssynergia cerebellaris myoclonica |
What is (are) Cicatricial pemphigoid ? | Cicatricial pemphigoid is a rare, chronic, blistering and scarring disease that affects the oral and ocular mucosa. Other mucosal sites that might be affected include the nasopharnyx, larynx, genitalia, rectum, and esophagus. The condition usually begins in late adulthood (e.g. 50's or 60's), affects more women than me... | Cicatricial pemphigoid |
What are the symptoms of Camptobrachydactyly ? | What are the signs and symptoms of Camptobrachydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptobrachydactyly. 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... | Camptobrachydactyly |
What is (are) Hemophilia ? | Hemophilia is a bleeding disorder that slows the blood clotting process. People with this disorder experience prolonged bleeding following an injury, surgery, or having a tooth pulled. In severe cases, heavy bleeding occurs after minor trauma or in the absence of injury. Serious complications can result from bleeding i... | Hemophilia |
What is (are) Virus associated hemophagocytic syndrome ? | Virus associated hemophagocytic syndrome is a very serious complication of a viral infection. Signs and symptoms of virus associated hemophagocytic syndrome, include high fever, liver problems, enlarged liver and spleen, coagulation factor abnormalities, decreased red or white blood cells and platelets (pancytopenia), ... | Virus associated hemophagocytic syndrome |
What are the symptoms of Oculo-cerebral dysplasia ? | What are the signs and symptoms of Oculo-cerebral dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculo-cerebral 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 Med... | Oculo-cerebral dysplasia |
What is (are) Sialidosis type I ? | Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features. Sialidosis type I is the less severe form of this condition. People with this c... | Sialidosis type I |
What are the symptoms of Sialidosis type I ? | What are the signs and symptoms of Sialidosis type I? The Human Phenotype Ontology provides the following list of signs and symptoms for Sialidosis type I. 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... | Sialidosis type I |
What are the treatments for Sialidosis type I ? | How might sialidosis type I be treated? There is no specific treatment for sialidosis. Management should be multidisciplinary and directed at supportive care and symptomatic relief. Overall health maintenance should be a priority, with seizure control as necessary. Myoclonic seizures often respond poorly to treatment w... | Sialidosis type I |
What is (are) Laryngeal cleft ? | A laryngeal cleft is a rare abnormality of the separation between the larynx, or voice box, and the esophagus. Normally, when the larynx develops, it is completely separate from the esophagus so swallowed foods go directly into the stomach. When a laryngeal cleft occurs, there is an opening between the larynx and the e... | Laryngeal cleft |
What are the symptoms of Laryngeal cleft ? | What are the signs and symptoms of Laryngeal cleft? The symptoms of laryngeal clefts range from mild stridor to significant difficulties with breathing and swallowing. Severity of symptoms depends on the severity of the cleft. Swallowing problems, a husky cry and feeding difficulties are common. Feeding often causes... | Laryngeal cleft |
What causes Laryngeal cleft ? | What causes laryngeal cleft? During fetal development, the trachea and esophagus begin as one tube. They later separate when a wall of tissue known as the tracheoesophageal septum forms, dividing the original tube into the trachea and esophagus. If the tracheoesophageal septum fails to form, the trachea and esophagus... | Laryngeal cleft |
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