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What are the treatments for Congenital adrenal hyperplasia ? | How might congenital adrenal hyperplasia be treated? The best treatment options for congenital adrenal hyperplasia (CAH) depend on many factors including the type of CAH and the signs and symptoms present in each person. Many people with CAH require steroids to replace the low hormones. These medications will need to b... | |
What are the symptoms of Spondyloepimetaphyseal dysplasia x-linked with mental deterioration ? | What are the signs and symptoms of Spondyloepimetaphyseal dysplasia x-linked with mental deterioration? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia x-linked with mental deterioration. If the information is available, the table below includes how of... | |
What is (are) Tracheal agenesis ? | Tracheal agenesis is a rare birth defect in which the trachea (windpipe) is completely absent (agenesis) or significantly underdeveloped (atresia). Signs and symptoms include polyhydramnios during pregnancy and respiratory distress, bluish skin color (cyanosis) and no audible cry shortly after birth. The underlying cau... | |
What are the symptoms of Tracheal agenesis ? | What are the signs and symptoms of Tracheal agenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Tracheal agenesis. 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 Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis ? | What are the signs and symptoms of Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis. If the inf... | |
What is (are) Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia ? | HEM (hydrops fetalis, ectopic calcifications, "moth-eaten" skeletal dysplasia) is a very rare type of lethal skeletal dysplasia. According to the reported cases of HEM in the medical literature, the condition's main features are hydrops fetalis, dwarfism with severely shortened limbs and relatively normal-sized hands a... | |
What are the symptoms of Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia ? | What are the signs and symptoms of Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia? The diagnostic findings of HEM (hydrops fetalis, severe micromelia, and ectopic calcification) have been present in all cases reported in the medical literature thus far. The following are several of the other signs and sy... | |
What causes Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia ? | What causes HEM? HEM is associated with mutations (changes) in the lamin B receptor (LBR) gene located on chromosome 1, specifically at 1q42.1. Each person has two copies of the LBR gene - one inherited from mom and the other from dad. People who have two mutated copies of the LBR gene have HEM; thus, the condition is... | |
How to diagnose Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia ? | How is HEM diagnosed? Establishing a diagnosis of HEM prenatally can be difficult and may require the interaction between a perinatologist, geneticist, and fetal/neonatal pathologist. Clinical examination, radiographs, genetic testing, and autopsy may be performed in order to establish a diagnosis of HEM. | |
What are the symptoms of Uhl anomaly ? | What are the signs and symptoms of Uhl anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Uhl anomaly. 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 is (are) Chromosome 16p13.3 deletion syndrome ? | Chromosome 16p13.3 deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique... | |
What are the symptoms of Chromosome 16p13.3 deletion syndrome ? | What are the signs and symptoms of Chromosome 16p13.3 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 16p13.3 deletion syndrome. 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 Spastic ataxia Charlevoix-Saguenay type ? | What are the signs and symptoms of Spastic ataxia Charlevoix-Saguenay type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic ataxia Charlevoix-Saguenay type. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | |
What are the symptoms of Corneal dystrophy Thiel Behnke type ? | What are the signs and symptoms of Corneal dystrophy Thiel Behnke type? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal dystrophy Thiel Behnke 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) Brachydactyly type C ? | Brachydactyly type C is a very rare congenital condition that is characterized by shortening of certain bones in the index, middle and little fingers. The bones of the ring finger are typically normal. Other abnormalities may also be present such as hypersegmentation (extra bones) of the index and middle fingers; ulnar... | |
What are the symptoms of Brachydactyly type C ? | What are the signs and symptoms of Brachydactyly type C? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type C. 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... | |
What is (are) Congenital lobar emphysema ? | Congenital lobar emphysema is a rare respiratory disorder in which air can enter the lungs but cannot escape, causing overinflation (hyperinflation) of the lobes of the lung. It is most often detected in newborns or young infants, but some cases do not become apparent until adulthood. Signs and symptoms may include dif... | |
What are the symptoms of Congenital lobar emphysema ? | What are the signs and symptoms of Congenital lobar emphysema? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital lobar emphysema. 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) 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 ... | |
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... | |
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... | |
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... | |
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. ... | |
What are the symptoms of Pili torti developmental delay neurological abnormalities ? | What are the signs and symptoms of Pili torti developmental delay neurological abnormalities? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili torti developmental delay neurological abnormalities. If the information is available, the table below includes how often the symptom is s... | |
What is (are) Craniopharyngioma ? | A craniopharyngioma is a slow-growing benign tumor that develops near the pituitary gland (a small endocrine gland at the base of the brain) and the hypothalamus (a small cone-shaped organ connected to the pituitary gland by nerves). This tumor most commonly affects children between 5 and 10 years of age; however, adul... | |
What are the symptoms of Craniopharyngioma ? | What symptoms may be associated with craniopharyngioma? Craniopharyngioma causes symptoms in three different ways: by increasing the pressure on the brain (intracranial pressure) by disrupting the function of the pituitary gland by damaging the optic nerve Increased pressure on the brain causes headache, nausea, vomiti... | |
What causes Craniopharyngioma ? | What causes craniopharyngioma? Craniopharyngiomas are thought to arise from epithelial remnants of the craniopharyngeal duct or Rathke's pouch (adamantinomatous type tumours) or from metaplasia of squamous epithelial cell rests that are remnants of the part of the stomadeum that contributed to the buccal mucosa (squamo... | |
What are the treatments for Craniopharyngioma ? | How might craniopharyngiomas be treated? Traditionally, surgery has been the main treatment for craniopharyngioma. However, radiation treatment instead of surgery may be the best choice for some patients. In tumors that cannot be removed completely with surgery alone, radiation therapy is usually necessary. If the tumo... | |
What is (are) Young syndrome ? | Young syndrome is a condition whose signs and symptoms may be similar to those seen in cystic fibrosis, including bronchiectasis, sinusitis, and obstructive azoospermia (a condition in which sperm are produced but do not mix with the rest of the ejaculatory fluid due to a physical obstruction, resulting in nonexistent ... | |
What are the symptoms of Young syndrome ? | What are the signs and symptoms of Young syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Young 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... | |
What is (are) Ollier disease ? | Ollier disease is a skeletal disorder characterized by an asymmetric distribution of cartilagenous tumors (endochondromas) which may lead to skeletal deformities and limb-length discrepancy.[3] This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where ... | |
What are the symptoms of Ollier disease ? | What are the signs and symptoms of Ollier disease? Clinical manifestations in Ollier disease often appear in the first decade of life and usually start with the appearance of palpable bony masses on a finger or a toe, an asymetric shortening of an extremity with limping, and skeletal deformities which may be associated... | |
What causes Ollier disease ? | What causes Ollier disease? The exact cause of Ollier disease is not known. It is usually a sporadic, non-familial disorder, however, in some cases, it may be inherited as an autosomal dominant genetic trait. | |
What are the treatments for Ollier disease ? | How might Ollier disease be treated? There is no specific medical treatment for Ollier disease. Surgery is indicated in cases where complications (pathological fractures, growth defect, malignant transformation) arise. | |
What is (are) Basilar migraine ? | Basilar migraine is a type of migraine headache with aura that is associated with bilateral (on both sides) pain at the back of the head. An aura is a group of symptoms that generally serve as a warning sign that a bad headache is coming and may include dizziness and vertigo, slurred speech, ataxia, tinnitus, visual ch... | |
What are the symptoms of Basilar migraine ? | What are the signs and symptoms of Basilar migraine? Episodes of basilar migraines usually begin with an aura, which is a group of symptoms that serve as a warning sign that a bad headache is coming. Signs and symptoms of an aura vary, but may include: Dizziness and vertigo Disorientation Double vision and other visual... | |
What causes Basilar migraine ? | What causes a basilar migraine? The exact underlying cause of basilar migraines is not well understood. Basilar migraines, like all types of migraines, are likely complex disorders that are influenced by multiple genes in combination with lifestyle and environmental factors. Scientists also suspect that nerve abnormali... | |
Is Basilar migraine inherited ? | Are basilar migraines inherited? In most cases, basilar migraines are not inherited. However, the susceptibility to basilar migraines may rarely be caused by a change (mutation) in the ATP1A2 gene or CACNA1A gene. In these cases, they are inherited in an autosomal dominant manner. This means that to be affected, a pers... | |
How to diagnose Basilar migraine ? | How is a basilar migraine diagnosed? A diagnosis of basilar migraine is made based on the presence of characteristic signs and symptoms. Although there are no tests available to confirm the diagnosis, additional testing may be ordered to rule out other conditions that can cause similar features. These tests may include... | |
What are the treatments for Basilar migraine ? | How are basilar migraines treated? During episodes of basilar migraines, people are generally treated with nonsteroidal anti-inflammatory drugs (NSAIDs) and antiemetic medications to help alleviate the symptoms. In some cases, a nerve block can be used to treat pain if other therapies are ineffective. In people with ep... | |
What is (are) Hypotrichosis-lymphedema-telangiectasia syndrome ? | Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is a rare condition that, as the name suggests, is associated with sparse hair (hypotrichosis), lymphedema, and telangiectasia, particularly on the palms of the hands. Symptoms usually begin at birth or in early childhood and become worse over time. HLTS is though... | |
What are the symptoms of Hypotrichosis-lymphedema-telangiectasia syndrome ? | What are the signs and symptoms of Hypotrichosis-lymphedema-telangiectasia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypotrichosis-lymphedema-telangiectasia syndrome. If the information is available, the table below includes how often the symptom is seen in people with... | |
What are the symptoms of Hyperthermia induced defects ? | What are the signs and symptoms of Hyperthermia induced defects? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperthermia induced defects. 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 Priapism ? | What are the signs and symptoms of Priapism? The Human Phenotype Ontology provides the following list of signs and symptoms for Priapism. 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... | |
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... | |
What are the symptoms of Acromegaloid changes, cutis verticis gyrata and corneal leukoma ? | What are the signs and symptoms of Acromegaloid changes, cutis verticis gyrata and corneal leukoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Acromegaloid changes, cutis verticis gyrata and corneal leukoma. If the information is available, the table below includes how often the ... | |
What is (are) Multifocal motor neuropathy ? | Multifocal motor neuropathy (MMN) is a rare neuropathy characterized by progressive, asymmetric muscle weakness and atrophy (wasting). Signs and symptoms include weakness in the hands and lower arms; cramping; involuntary contractions or twitching; and atrophy of affected muscles. MMN is thought to be due to an abnorma... | |
What are the symptoms of Multifocal motor neuropathy ? | What are the signs and symptoms of multifocal motor neuropathy? Signs and symptoms of multifocal motor neuropathy (MMN) may include weakness; cramping; involuntary contractions or twitching; and wasting (atrophy) of affected muscles. Atrophy occurs late in the course of the condition. Muscles of the hands and lower arm... | |
What causes Multifocal motor neuropathy ? | What causes multifocal motor neuropathy? The exact underlying cause of multifocal motor neuropathy (MMN) is poorly understood. It is considered an immune-mediated disorder (due to an abnormal immune system response), both because IVIG therapy improves symptoms, and many patients have anti-GM1 antibodies. Research to fu... | |
Is Multifocal motor neuropathy inherited ? | Is multifocal motor neuropathy inherited? We are not aware of any evidence that multifocal motor neuropathy (MMN) is inherited or of any reports of familial cases (occurring in more than one person in a family). Furthermore, to our knowledge, no specific genes known to be associated with MMN have been identified. | |
What are the treatments for Multifocal motor neuropathy ? | How might multifocal motor neuropathy be treated? Multifocal motor neuropathy (MMN) is considered treatable with intravenous immune globulin (IVIG). Early treatment shortly after symptoms begin is recommended. Most people have a fairly rapid improvement in weakness with IVIG, but the improvement generally does not last... | |
What are the symptoms of Hodgkin lymphoma ? | What are the signs and symptoms of Hodgkin lymphoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Hodgkin lymphoma. 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) Intravenous leiomyomatosis ? | Intravenous leiomyomatosis (IVL) is a benign smooth muscle tumor of the uterus that grows within the veins but does not invade the surrounding tissue. IVL usually starts in the veins of the uterus and can extend into the inferior vena cava and ultimately into the right side of the heart, resulting in death The abnormal... | |
What are the symptoms of Intravenous leiomyomatosis ? | What are the signs and symptoms of intravenous leiomyomatosis? IVL most often does not cause detectable signs or symptoms. In fact, they may be found by chance during surgery. When symptoms do arise, they can include abnormal uterine bleeding, lower abdominal tenderness, ad venous thrombosis. When IVL in the uterus is ... | |
What are the treatments for Intravenous leiomyomatosis ? | How might intravenous leiomyomatosis be treated? The mainstay of treatment for IVL is surgery to remove the tumor and its spread throughout the body. The use of anti-estrogen therapy, such as tamoxifen, has also been suggested. Surgery requires the complete removal of the tumor, since incomplete removal may result in a... | |
What are the symptoms of Maturity-onset diabetes of the young, type 7 ? | What are the signs and symptoms of Maturity-onset diabetes of the young, type 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Maturity-onset diabetes of the young, type 7. If the information is available, the table below includes how often the symptom is seen in people with this co... | |
What are the symptoms of Leber congenital amaurosis 2 ? | What are the signs and symptoms of Leber congenital amaurosis 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 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 Medline... | |
What is (are) Thyroglossal tract cyst ? | A thyroglossal duct cyst is a neck mass or lump that develops from cells and tissues remaining after the formation of the thyroid gland during embryonic development. | |
What causes Thyroglossal tract cyst ? | Can thyroglossal duct cysts cause weight loss? Weight loss is not commonly cited as a specific symptom of thyroglossal duct cysts, however large cysts can cause difficulty swallowing and breathing. Infected cysts may be tender with associated difficulty in swallowing, loss of voice, fever, and increasing mass size. Som... | |
What are the treatments for Thyroglossal tract cyst ? | How might a thyroglossal duct cyst be treated? Surgical excision is the treatment of choice for uncomplicated thyroglossal duct cysts to prevent infection of the cyst. The Sistrunk procedure can be preformed to reduce the risk of recurrence. Infection of the cyst prior to surgery can make the removal more difficult and... | |
What is (are) Trigeminal neuralgia ? | Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressi... | |
What are the symptoms of Trigeminal neuralgia ? | What are the signs and symptoms of Trigeminal neuralgia? The Human Phenotype Ontology provides the following list of signs and symptoms for Trigeminal neuralgia. 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... | |
What are the treatments for Trigeminal neuralgia ? | How might trigeminal neuralgia be treated? Treatment options include medicines, surgery, and complementary approaches. Anticonvulsant medicinesused to block nerve firingare generally effective in treating trigeminal neuralgia. These drugs include carbamazepine, oxcarbazepine, topiramate, clonazepam, phenytoin, lamotri... | |
SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare disorder of bone growth characterized by skeletal, brain, and skin abnormalities. All people with this condition have extremely short stature with particularly short arms and legs. Other features include unusual bowing of the leg... | What is (are) SADDAN ? | SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare disorder of bone growth characterized by skeletal, brain, and skin abnormalities. All people with this condition have extremely short stature with particularly short arms and legs. Other features include unusual bowing of the le... |
SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare disorder of bone growth characterized by skeletal, brain, and skin abnormalities. All people with this condition have extremely short stature with particularly short arms and legs. Other features include unusual bowing of the leg... | How many people are affected by SADDAN ? | This disorder is very rare; it has been described in only a small number of individuals worldwide. |
SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare disorder of bone growth characterized by skeletal, brain, and skin abnormalities. All people with this condition have extremely short stature with particularly short arms and legs. Other features include unusual bowing of the leg... | What are the genetic changes related to SADDAN ? | Mutations in the FGFR3 gene cause SADDAN. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. A mutation in this gene may cause the FGFR3 protein to be overly active, which leads to the disturbances in bone growth that are characteristi... |
SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare disorder of bone growth characterized by skeletal, brain, and skin abnormalities. All people with this condition have extremely short stature with particularly short arms and legs. Other features include unusual bowing of the leg... | Is SADDAN inherited ? | SADDAN is considered an autosomal dominant disorder because one mutated copy of the FGFR3 gene in each cell is sufficient to cause the condition. The few described cases of SADDAN have been caused by new mutations in the FGFR3 gene and occurred in people with no history of the disorder in their family. No individuals w... |
SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare disorder of bone growth characterized by skeletal, brain, and skin abnormalities. All people with this condition have extremely short stature with particularly short arms and legs. Other features include unusual bowing of the leg... | What are the treatments for SADDAN ? | These resources address the diagnosis or management of SADDAN: - Gene Review: Gene Review: Achondroplasia - Genetic Testing Registry: Severe achondroplasia with developmental delay and acanthosis nigricans - MedlinePlus Encyclopedia: Acanthosis Nigricans These resources from MedlinePlus offer information about the... |
Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effec... | What is (are) critical congenital heart disease ? | Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effec... |
Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effec... | How many people are affected by critical congenital heart disease ? | Heart defects are the most common type of birth defect, accounting for more than 30 percent of all infant deaths due to birth defects. CCHD represents some of the most serious types of heart defects. About 7,200 newborns, or 18 per 10,000, in the United States are diagnosed with CCHD each year. |
Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effec... | What are the genetic changes related to critical congenital heart disease ? | In most cases, the cause of CCHD is unknown. A variety of genetic and environmental factors likely contribute to this complex condition. Changes in single genes have been associated with CCHD. Studies suggest that these genes are involved in normal heart development before birth. Most of the identified mutations reduc... |
Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effec... | Is critical congenital heart disease inherited ? | Most cases of CCHD are sporadic, which means they occur in people with no history of the disorder in their family. However, close relatives (such as siblings) of people with CCHD may have an increased risk of being born with a heart defect compared with people in the general population. |
Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effec... | What are the treatments for critical congenital heart disease ? | These resources address the diagnosis or management of critical congenital heart disease: - Baby's First Test: Critical Congenital Heart Disease - Boston Children's Hospital - Centers for Disease Control and Prevention: Screening for Critical Congenital Heart Defects - Children's Hospital of Philadelphia - Cincinn... |
Antiphospholipid syndrome is a disorder characterized by an increased tendency to form abnormal blood clots (thromboses) that can block blood vessels. This clotting tendency is known as thrombophilia. In antiphospholipid syndrome, the thromboses can develop in nearly any blood vessel in the body. If a blood clot forms ... | What is (are) antiphospholipid syndrome ? | Antiphospholipid syndrome is a disorder characterized by an increased tendency to form abnormal blood clots (thromboses) that can block blood vessels. This clotting tendency is known as thrombophilia. In antiphospholipid syndrome, the thromboses can develop in nearly any blood vessel in the body, but most frequently oc... |
Antiphospholipid syndrome is a disorder characterized by an increased tendency to form abnormal blood clots (thromboses) that can block blood vessels. This clotting tendency is known as thrombophilia. In antiphospholipid syndrome, the thromboses can develop in nearly any blood vessel in the body. If a blood clot forms ... | How many people are affected by antiphospholipid syndrome ? | The exact prevalence of antiphospholipid syndrome is unknown. This condition is thought to be fairly common, and may be responsible for up to one percent of all thromboses. It is estimated that 20 percent of individuals younger than age 50 who have a stroke have antiphospholipid syndrome. Ten to 15 percent of people wi... |
Antiphospholipid syndrome is a disorder characterized by an increased tendency to form abnormal blood clots (thromboses) that can block blood vessels. This clotting tendency is known as thrombophilia. In antiphospholipid syndrome, the thromboses can develop in nearly any blood vessel in the body. If a blood clot forms ... | What are the genetic changes related to antiphospholipid syndrome ? | The genetic cause of antiphospholipid syndrome is unknown. This condition is associated with the presence of three abnormal immune proteins (antibodies) in the blood: lupus anticoagulant, anticardiolipin, and anti-B2 glycoprotein I. Antibodies normally bind to specific foreign particles and germs, marking them for dest... |
Antiphospholipid syndrome is a disorder characterized by an increased tendency to form abnormal blood clots (thromboses) that can block blood vessels. This clotting tendency is known as thrombophilia. In antiphospholipid syndrome, the thromboses can develop in nearly any blood vessel in the body. If a blood clot forms ... | Is antiphospholipid syndrome inherited ? | Most cases of antiphospholipid syndrome are sporadic, which means they occur in people with no history of the disorder in their family. Rarely, the condition has been reported to run in families; however, it does not have a clear pattern of inheritance. Multiple genetic and environmental factors likely play a part in d... |
Antiphospholipid syndrome is a disorder characterized by an increased tendency to form abnormal blood clots (thromboses) that can block blood vessels. This clotting tendency is known as thrombophilia. In antiphospholipid syndrome, the thromboses can develop in nearly any blood vessel in the body. If a blood clot forms ... | What are the treatments for antiphospholipid syndrome ? | These resources address the diagnosis or management of antiphospholipid syndrome: - Genetic Testing Registry: Antiphospholipid syndrome - Hughes Syndrome Foundation: Diagnosis: How To Get Tested - Hughes Syndrome Foundation: Treatment and Medication: Current Advice and Information - National Heart Lung and Blood In... |
Juvenile idiopathic arthritis refers to a group of conditions involving joint inflammation (arthritis) that first appears before the age of 16. This condition is an autoimmune disorder, which means that the immune system malfunctions and attacks the body's organs and tissues, in this case the joints. Researchers have d... | What is (are) juvenile idiopathic arthritis ? | Juvenile idiopathic arthritis refers to a group of conditions involving joint inflammation (arthritis) that first appears before the age of 16. This condition is an autoimmune disorder, which means that the immune system malfunctions and attacks the body's organs and tissues, in this case the joints. Researchers have ... |
Juvenile idiopathic arthritis refers to a group of conditions involving joint inflammation (arthritis) that first appears before the age of 16. This condition is an autoimmune disorder, which means that the immune system malfunctions and attacks the body's organs and tissues, in this case the joints. Researchers have d... | How many people are affected by juvenile idiopathic arthritis ? | The incidence of juvenile idiopathic arthritis in North America and Europe is estimated to be 4 to 16 in 10,000 children. One in 1,000, or approximately 294,000, children in the United States are affected. The most common type of juvenile idiopathic arthritis in the United States is oligoarticular juvenile idiopathic a... |
Juvenile idiopathic arthritis refers to a group of conditions involving joint inflammation (arthritis) that first appears before the age of 16. This condition is an autoimmune disorder, which means that the immune system malfunctions and attacks the body's organs and tissues, in this case the joints. Researchers have d... | What are the genetic changes related to juvenile idiopathic arthritis ? | Juvenile idiopathic arthritis is thought to arise from a combination of genetic and environmental factors. The term "idiopathic" indicates that the specific cause of the disorder is unknown. Its signs and symptoms result from excessive inflammation in and around the joints. Inflammation occurs when the immune system se... |
Juvenile idiopathic arthritis refers to a group of conditions involving joint inflammation (arthritis) that first appears before the age of 16. This condition is an autoimmune disorder, which means that the immune system malfunctions and attacks the body's organs and tissues, in this case the joints. Researchers have d... | Is juvenile idiopathic arthritis inherited ? | Most cases of juvenile idiopathic arthritis are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of cases of juvenile idiopathic arthritis have been reported to run in families, although the inheritance pattern of the condition is unclear. A sibling of a per... |
Juvenile idiopathic arthritis refers to a group of conditions involving joint inflammation (arthritis) that first appears before the age of 16. This condition is an autoimmune disorder, which means that the immune system malfunctions and attacks the body's organs and tissues, in this case the joints. Researchers have d... | What are the treatments for juvenile idiopathic arthritis ? | These resources address the diagnosis or management of juvenile idiopathic arthritis: - American College of Rheumatology: Arthritis in Children - Genetic Testing Registry: Rheumatoid arthritis, systemic juvenile These resources from MedlinePlus offer information about the diagnosis and management of various health ... |
Or, try one of these pages: If you need help, see our site map or contact us. | What is (are) isodicentric chromosome 15 syndrome ? | Isodicentric chromosome 15 syndrome is a developmental disorder with a broad spectrum of features. The signs and symptoms vary among affected individuals. Poor muscle tone is commonly seen in individuals with isodicentric chromosome 15 syndrome and contributes to delayed development and impairment of motor skills, inc... |
Or, try one of these pages: If you need help, see our site map or contact us. | How many people are affected by isodicentric chromosome 15 syndrome ? | Isodicentric chromosome 15 syndrome occurs in about 1 in 30,000 newborns. |
Or, try one of these pages: If you need help, see our site map or contact us. | What are the genetic changes related to isodicentric chromosome 15 syndrome ? | Isodicentric chromosome 15 syndrome results from the presence of an abnormal extra chromosome, called an isodicentric chromosome 15, in each cell. An isodicentric chromosome contains mirror-image segments of genetic material and has two constriction points (centromeres), rather than one centromere as in normal chromoso... |
Or, try one of these pages: If you need help, see our site map or contact us. | Is isodicentric chromosome 15 syndrome inherited ? | Isodicentric chromosome 15 syndrome is usually not inherited. The chromosomal change that causes the disorder typically occurs as a random event during the formation of reproductive cells (eggs or sperm) in a parent of the affected individual. Most affected individuals have no history of the disorder in their family. |
Or, try one of these pages: If you need help, see our site map or contact us. | What are the treatments for isodicentric chromosome 15 syndrome ? | These resources address the diagnosis or management of isodicentric chromosome 15 syndrome: - Autism Speaks: How is Autism Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - ... |
Familial osteochondritis dissecans is a condition that affects the joints and is associated with abnormal cartilage. Cartilage is a tough but flexible tissue that covers the ends of the bones at joints and is also part of the developing skeleton. A characteristic feature of familial osteochondritis dissecans is areas o... | What is (are) familial osteochondritis dissecans ? | Familial osteochondritis dissecans is a condition that affects the joints and is associated with abnormal cartilage. Cartilage is a tough but flexible tissue that covers the ends of the bones at joints and is also part of the developing skeleton. A characteristic feature of familial osteochondritis dissecans is areas o... |
Familial osteochondritis dissecans is a condition that affects the joints and is associated with abnormal cartilage. Cartilage is a tough but flexible tissue that covers the ends of the bones at joints and is also part of the developing skeleton. A characteristic feature of familial osteochondritis dissecans is areas o... | How many people are affected by familial osteochondritis dissecans ? | Familial osteochondritis dissecans is a rare condition, although the prevalence is unknown. Sporadic osteochondritis dissecans is more common; it is estimated to occur in the knee in 15 to 29 per 100,000 individuals. |
Familial osteochondritis dissecans is a condition that affects the joints and is associated with abnormal cartilage. Cartilage is a tough but flexible tissue that covers the ends of the bones at joints and is also part of the developing skeleton. A characteristic feature of familial osteochondritis dissecans is areas o... | What are the genetic changes related to familial osteochondritis dissecans ? | Mutation of the ACAN gene can cause familial osteochondritis dissecans. The ACAN gene provides instructions for making the aggrecan protein, which is a component of cartilage. Aggrecan attaches to the other components of cartilage, organizing the network of molecules that gives cartilage its strength. In addition, aggr... |
Familial osteochondritis dissecans is a condition that affects the joints and is associated with abnormal cartilage. Cartilage is a tough but flexible tissue that covers the ends of the bones at joints and is also part of the developing skeleton. A characteristic feature of familial osteochondritis dissecans is areas o... | Is familial osteochondritis dissecans inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. |
Familial osteochondritis dissecans is a condition that affects the joints and is associated with abnormal cartilage. Cartilage is a tough but flexible tissue that covers the ends of the bones at joints and is also part of the developing skeleton. A characteristic feature of familial osteochondritis dissecans is areas o... | What are the treatments for familial osteochondritis dissecans ? | These resources address the diagnosis or management of familial osteochondritis dissecans: - Cedars-Sinai - Genetic Testing Registry: Osteochondritis dissecans - Seattle Children's: Osteochondritis Dissecans Symptoms and Diagnosis These resources from MedlinePlus offer information about the diagnosis and managemen... |
Atelosteogenesis type 3 is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. A... | What is (are) atelosteogenesis type 3 ? | Atelosteogenesis type 3 is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. A... |
Atelosteogenesis type 3 is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. A... | How many people are affected by atelosteogenesis type 3 ? | Atelosteogenesis type 3 is a rare disorder; its exact prevalence is unknown. About two dozen affected individuals have been identified. |
Atelosteogenesis type 3 is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. A... | What are the genetic changes related to atelosteogenesis type 3 ? | Mutations in the FLNB gene cause atelosteogenesis type 3. The FLNB gene provides instructions for making a protein called filamin B. This protein helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin B attaches (binds) to another prot... |
Atelosteogenesis type 3 is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. A... | Is atelosteogenesis type 3 inherited ? | This condition is 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. |
Atelosteogenesis type 3 is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. A... | What are the treatments for atelosteogenesis type 3 ? | These resources address the diagnosis or management of atelosteogenesis type 3: - Gene Review: Gene Review: FLNB-Related Disorders - Genetic Testing Registry: Atelosteogenesis type 3 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tes... |
X-linked chondrodysplasia punctata 2 is a disorder characterized by bone, skin, and eye abnormalities. It occurs almost exclusively in females. Although the signs and symptoms of this condition vary widely, almost all affected individuals have chondrodysplasia punctata, an abnormality that appears on x-rays as spots (s... | What is (are) X-linked chondrodysplasia punctata 2 ? | X-linked chondrodysplasia punctata 2 is a disorder characterized by bone, skin, and eye abnormalities. It occurs almost exclusively in females. Although the signs and symptoms of this condition vary widely, almost all affected individuals have chondrodysplasia punctata, an abnormality that appears on x-rays as spots (... |
X-linked chondrodysplasia punctata 2 is a disorder characterized by bone, skin, and eye abnormalities. It occurs almost exclusively in females. Although the signs and symptoms of this condition vary widely, almost all affected individuals have chondrodysplasia punctata, an abnormality that appears on x-rays as spots (s... | How many people are affected by X-linked chondrodysplasia punctata 2 ? | X-linked chondrodysplasia punctata 2 has been estimated to affect fewer than 1 in 400,000 newborns. However, the disorder may actually be more common than this estimate because it is likely underdiagnosed, particularly in females with mild signs and symptoms. More than 95 percent of cases of X-linked chondrodysplasia ... |
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