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What is (are) Wagner syndrome ? | Wagner syndrome is a hereditary disorder that causes progressive vision loss. The eye problems that lead to vision loss typically begin in childhood, although the vision impairment might not be immediately apparent. In people with Wagner syndrome, the light-sensitive tissue that lines the back of the eye (the retina) ... | Wagner syndrome |
How many people are affected by Wagner syndrome ? | Wagner syndrome is a rare disorder, although its exact prevalence is unknown. Approximately 300 affected individuals have been described worldwide; about half of these individuals are from the Netherlands. | Wagner syndrome |
What are the genetic changes related to Wagner syndrome ? | Mutations in the VCAN gene cause Wagner syndrome. The VCAN gene provides instructions for making a protein called versican. Versican is found in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. Versican interacts with many of these proteins... | Wagner syndrome |
Is Wagner syndrome 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. | Wagner syndrome |
What are the treatments for Wagner syndrome ? | These resources address the diagnosis or management of Wagner syndrome: - Gene Review: Gene Review: VCAN-Related Vitreoretinopathy - Genetic Testing Registry: Wagner syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Dr... | Wagner syndrome |
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 muscles that are affected most often: those of the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral). The signs and symptoms of facioscap... | facioscapulohumeral muscular dystrophy |
How many people are affected by facioscapulohumeral muscular dystrophy ? | Facioscapulohumeral muscular dystrophy has an estimated prevalence of 1 in 20,000 people. About 95 percent of all cases are FSHD1; the remaining 5 percent are FSHD2. | facioscapulohumeral muscular dystrophy |
What are the genetic changes related to facioscapulohumeral muscular dystrophy ? | Facioscapulohumeral muscular dystrophy is caused by genetic changes involving the long (q) arm of chromosome 4. Both types of the disease result from changes in a region of DNA near the end of the chromosome known as D4Z4. This region consists of 11 to more than 100 repeated segments, each of which is about 3,300 DNA b... | facioscapulohumeral muscular dystrophy |
Is facioscapulohumeral muscular dystrophy inherited ? | FSHD1 is inherited in an autosomal dominant pattern, which means one copy of the shortened D4Z4 region on a "permissive" chromosome 4 is sufficient to cause the disorder. In most cases, an affected person inherits the altered chromosome from one affected parent. Other people with FSHD1 have no history of the disorder i... | facioscapulohumeral muscular dystrophy |
What are the treatments for facioscapulohumeral muscular dystrophy ? | These resources address the diagnosis or management of facioscapulohumeral muscular dystrophy: - Gene Review: Gene Review: Facioscapulohumeral Muscular Dystrophy - Genetic Testing Registry: Facioscapulohumeral muscular dystrophy - Genetic Testing Registry: Facioscapulohumeral muscular dystrophy 2 - MedlinePlus Ency... | facioscapulohumeral muscular dystrophy |
What is (are) Roberts syndrome ? | Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities. Affected individuals also grow slowly before and after birth. Mild to severe intellectual impairment occurs in half of all people with Roberts syndrome. Children with Roberts syndrome are born with abnormalities of all four limbs. T... | Roberts syndrome |
How many people are affected by Roberts syndrome ? | Roberts syndrome is a rare disorder; approximately 150 affected individuals have been reported. | Roberts syndrome |
What are the genetic changes related to Roberts syndrome ? | Mutations in the ESCO2 gene cause Roberts syndrome. This gene provides instructions for making a protein that is important for proper chromosome separation during cell division. Before cells divide, they must copy all of their chromosomes. The copied DNA from each chromosome is arranged into two identical structures, c... | Roberts syndrome |
Is Roberts syndrome inherited ? | This condition 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 symptoms of the condition. | Roberts syndrome |
What are the treatments for Roberts syndrome ? | These resources address the diagnosis or management of Roberts syndrome: - Gene Review: Gene Review: Roberts Syndrome - Genetic Testing Registry: Roberts-SC phocomelia syndrome - MedlinePlus Encyclopedia: Contracture deformity - MedlinePlus Encyclopedia: Microcephaly These resources from MedlinePlus offer informa... | Roberts syndrome |
What is (are) cartilage-hair hypoplasia ? | Cartilage-hair hypoplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities; fine, sparse hair (hypotrichosis); and abnormal immune system function (immune deficiency) that can lead to recurrent infections. People with cartilage-hair hypoplasia have unusually shor... | cartilage-hair hypoplasia |
How many people are affected by cartilage-hair hypoplasia ? | Cartilage-hair hypoplasia occurs most often in the Old Order Amish population, where it affects about 1 in 1,300 newborns. In people of Finnish descent, its incidence is approximately 1 in 20,000. Outside of these populations, the condition is rare, and its specific incidence is not known. It has been reported in indiv... | cartilage-hair hypoplasia |
What are the genetic changes related to cartilage-hair hypoplasia ? | Cartilage-hair hypoplasia is caused by mutations in the RMRP gene. Unlike many genes, the RMRP gene does not contain instructions for making a protein. Instead, a molecule called a noncoding RNA, a chemical cousin of DNA, is produced from the RMRP gene. This RNA attaches (binds) to several proteins, forming an enzyme c... | cartilage-hair hypoplasia |
Is cartilage-hair hypoplasia inherited ? | This condition 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 symptoms of the condition. | cartilage-hair hypoplasia |
What are the treatments for cartilage-hair hypoplasia ? | These resources address the diagnosis or management of cartilage-hair hypoplasia: - Gene Review: Gene Review: Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders - Genetic Testing Registry: Metaphyseal chondrodysplasia, McKusick type These resources from MedlinePlus offer information about the diagno... | cartilage-hair hypoplasia |
What is (are) T-cell immunodeficiency, congenital alopecia, and nail dystrophy ? | T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a type of severe combined immunodeficiency (SCID), which is a group of disorders characterized by an almost total lack of immune protection from foreign invaders such as bacteria and viruses. People with this form of SCID are missing functional immune ... | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
How many people are affected by T-cell immunodeficiency, congenital alopecia, and nail dystrophy ? | T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a rare disorder. It has been diagnosed in only a few individuals, almost all of whom are members of a large extended family from a community in southern Italy. | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
What are the genetic changes related to T-cell immunodeficiency, congenital alopecia, and nail dystrophy ? | T-cell immunodeficiency, congenital alopecia, and nail dystrophy results from mutations in the FOXN1 gene. This gene provides instructions for making a protein that is important for development of the skin, hair, nails, and immune system. Studies suggest that this protein helps guide the formation of hair follicles and... | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
Is T-cell immunodeficiency, congenital alopecia, and nail dystrophy inherited ? | This condition 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 symptoms of the condition. However, some pe... | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
What are the treatments for T-cell immunodeficiency, congenital alopecia, and nail dystrophy ? | These resources address the diagnosis or management of T-cell immunodeficiency, congenital alopecia, and nail dystrophy: - Be The Match: What is a Bone Marrow Transplant? - Genetic Testing Registry: T-cell immunodeficiency, congenital alopecia and nail dystrophy - MedlinePlus Encyclopedia: Bone Marrow Transplant T... | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
What is (are) auriculo-condylar syndrome ? | Auriculo-condylar syndrome is a condition that affects facial development, particularly development of the ears and lower jaw (mandible). Most people with auriculo-condylar syndrome have malformed outer ears ("auriculo-" refers to the ears). A hallmark of this condition is an ear abnormality called a "question-mark ea... | auriculo-condylar syndrome |
How many people are affected by auriculo-condylar syndrome ? | Auriculo-condylar syndrome appears to be a rare disorder. More than two dozen affected individuals have been described in the medical literature. | auriculo-condylar syndrome |
What are the genetic changes related to auriculo-condylar syndrome ? | Auriculo-condylar syndrome can be caused by mutations in either the GNAI3 or PLCB4 gene. These genes provide instructions for making proteins that are involved in chemical signaling within cells. They help transmit information from outside the cell to inside the cell, which instructs the cell to grow, divide, or take o... | auriculo-condylar syndrome |
Is auriculo-condylar syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is typically sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with ... | auriculo-condylar syndrome |
What are the treatments for auriculo-condylar syndrome ? | These resources address the diagnosis or management of auriculo-condylar syndrome: - Genetic Testing Registry: Auriculocondylar syndrome 1 - Genetic Testing Registry: Auriculocondylar syndrome 2 - MedlinePlus Encyclopedia: Cleft Lip and Palate - MedlinePlus Encyclopedia: Pinna Abnormalities and Low-Set Ears These... | auriculo-condylar syndrome |
What is (are) isobutyryl-CoA dehydrogenase deficiency ? | Isobutyryl-CoA dehydrogenase (IBD) deficiency is a condition that disrupts the breakdown of certain proteins. Normally, proteins from food are broken down into parts called amino acids. Amino acids can be further processed to provide energy for growth and development. People with IBD deficiency have inadequate levels o... | isobutyryl-CoA dehydrogenase deficiency |
How many people are affected by isobutyryl-CoA dehydrogenase deficiency ? | IBD deficiency is a rare disorder; approximately 22 cases have been reported in the medical literature. | isobutyryl-CoA dehydrogenase deficiency |
What are the genetic changes related to isobutyryl-CoA dehydrogenase deficiency ? | Mutations in the ACAD8 gene cause IBD deficiency. This gene provides instructions for making the IBD enzyme, which is involved in breaking down valine. ACAD8 gene mutations reduce or eliminate the activity of the IBD enzyme. As a result, valine is not broken down properly. Impaired processing of valine may lead to redu... | isobutyryl-CoA dehydrogenase deficiency |
Is isobutyryl-CoA dehydrogenase deficiency inherited ? | This condition 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 symptoms of the condition. | isobutyryl-CoA dehydrogenase deficiency |
What are the treatments for isobutyryl-CoA dehydrogenase deficiency ? | These resources address the diagnosis or management of isobutyryl-CoA dehydrogenase deficiency: - Baby's First Test - Genetic Testing Registry: Deficiency of isobutyryl-CoA dehydrogenase - MedlinePlus Encyclopedia: Dilated Cardiomyopathy These resources from MedlinePlus offer information about the diagnosis and ma... | isobutyryl-CoA dehydrogenase deficiency |
What is (are) Allan-Herndon-Dudley syndrome ? | Allan-Herndon-Dudley syndrome is a rare disorder of brain development that causes moderate to severe intellectual disability and problems with movement. This condition, which occurs exclusively in males, disrupts development from before birth. Although affected males have impaired speech and a limited ability to commun... | Allan-Herndon-Dudley syndrome |
How many people are affected by Allan-Herndon-Dudley syndrome ? | Allan-Herndon-Dudley syndrome appears to be a rare disorder. About 25 families with individuals affected by this condition have been reported worldwide. | Allan-Herndon-Dudley syndrome |
What are the genetic changes related to Allan-Herndon-Dudley syndrome ? | Mutations in the SLC16A2 gene cause Allan-Herndon-Dudley syndrome. The SLC16A2 gene, also known as MCT8, provides instructions for making a protein that plays a critical role in the development of the nervous system. This protein transports a particular hormone into nerve cells in the developing brain. This hormone, ca... | Allan-Herndon-Dudley syndrome |
Is Allan-Herndon-Dudley syndrome inherited ? | This condition is inherited in an X-linked recessive pattern. 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. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the co... | Allan-Herndon-Dudley syndrome |
What are the treatments for Allan-Herndon-Dudley syndrome ? | These resources address the diagnosis or management of Allan-Herndon-Dudley syndrome: - Gene Review: Gene Review: MCT8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency - Genetic Testing Registry: Allan-Herndon-Dudley syndrome - MedlinePlus Encyclopedia: Intellectual Disability - MedlinePlus Encyclopedi... | Allan-Herndon-Dudley syndrome |
What is (are) Manitoba oculotrichoanal syndrome ? | Manitoba oculotrichoanal syndrome is a condition involving several characteristic physical features, particularly affecting the eyes (oculo-), hair (tricho-), and anus (-anal). People with Manitoba oculotrichoanal syndrome have widely spaced eyes (hypertelorism). They may also have other eye abnormalities including sm... | Manitoba oculotrichoanal syndrome |
How many people are affected by Manitoba oculotrichoanal syndrome ? | Manitoba oculotrichoanal syndrome is estimated to occur in 2 to 6 in 1,000 people in a small isolated Ojibway-Cree community in northern Manitoba, Canada. Although this region has the highest incidence of the condition, it has also been diagnosed in a few people from other parts of the world. | Manitoba oculotrichoanal syndrome |
What are the genetic changes related to Manitoba oculotrichoanal syndrome ? | Manitoba oculotrichoanal syndrome is caused by mutations in the FREM1 gene. The FREM1 gene provides instructions for making a protein that is involved in the formation and organization of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. The FREM1 protein is one... | Manitoba oculotrichoanal syndrome |
Is Manitoba oculotrichoanal syndrome inherited ? | This condition 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 symptoms of the condition. | Manitoba oculotrichoanal syndrome |
What are the treatments for Manitoba oculotrichoanal syndrome ? | These resources address the diagnosis or management of Manitoba oculotrichoanal syndrome: - Gene Review: Gene Review: Manitoba Oculotrichoanal Syndrome - Genetic Testing Registry: Marles Greenberg Persaud syndrome - MedlinePlus Encyclopedia: Omphalocele Repair These resources from MedlinePlus offer information abo... | Manitoba oculotrichoanal syndrome |
What is (are) juvenile Paget disease ? | Juvenile Paget disease is a disorder that affects bone growth. This disease causes bones to be abnormally large, misshapen, and easily broken (fractured). The signs of juvenile Paget disease appear in infancy or early childhood. As bones grow, they become progressively weaker and more deformed. These abnormalities usu... | juvenile Paget disease |
How many people are affected by juvenile Paget disease ? | Juvenile Paget disease is rare; about 50 affected individuals have been identified worldwide. | juvenile Paget disease |
What are the genetic changes related to juvenile Paget disease ? | Juvenile Paget disease is caused by mutations in the TNFRSF11B gene. This gene provides instructions for making a protein that is involved in bone remodeling, a normal process in which old bone is broken down and new bone is created to replace it. Bones are constantly being remodeled, and the process is carefully cont... | juvenile Paget disease |
Is juvenile Paget disease inherited ? | This condition 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 symptoms of the condition. | juvenile Paget disease |
What are the treatments for juvenile Paget disease ? | These resources address the diagnosis or management of juvenile Paget disease: - Genetic Testing Registry: Hyperphosphatasemia with bone disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehab... | juvenile Paget disease |
What is (are) autosomal recessive primary microcephaly ? | Autosomal recessive primary microcephaly (often shortened to MCPH, which stands for "microcephaly primary hereditary") is a condition in which infants are born with a very small head and a small brain. The term "microcephaly" comes from the Greek words for "small head." Infants with MCPH have an unusually small head c... | autosomal recessive primary microcephaly |
How many people are affected by autosomal recessive primary microcephaly ? | The prevalence of all forms of microcephaly that are present from birth (primary microcephaly) ranges from 1 in 30,000 to 1 in 250,000 newborns worldwide. About 200 families with MCPH have been reported in the medical literature. This condition is more common in several specific populations, such as in northern Pakista... | autosomal recessive primary microcephaly |
What are the genetic changes related to autosomal recessive primary microcephaly ? | MCPH can result from mutations in at least seven genes. Mutations in the ASPM gene are the most common cause of the disorder, accounting for about half of all cases. The genes associated with MCPH play important roles in early brain development, particularly in determining brain size. Studies suggest that the proteins... | autosomal recessive primary microcephaly |
Is autosomal recessive primary microcephaly inherited ? | This condition 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 symptoms of the condition. | autosomal recessive primary microcephaly |
What are the treatments for autosomal recessive primary microcephaly ? | These resources address the diagnosis or management of MCPH: - Gene Review: Gene Review: Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders - Genetic Testing Registry: Primary autosomal recessive microcephaly 1 - Genetic Testing Registry: Primary autosomal recessive microcephaly 2 - G... | autosomal recessive primary microcephaly |
What is (are) multiple epiphyseal dysplasia ? | Multiple epiphyseal dysplasia is a disorder of cartilage and bone development primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of multiple epiphyseal dysplasia, which can be distinguished by their pattern of inheritance. Both the dominant and recessive types have rela... | multiple epiphyseal dysplasia |
How many people are affected by multiple epiphyseal dysplasia ? | The incidence of dominant multiple epiphyseal dysplasia is estimated to be at least 1 in 10,000 newborns. The incidence of recessive multiple epiphyseal dysplasia is unknown. Both forms of this disorder may actually be more common because some people with mild symptoms are never diagnosed. | multiple epiphyseal dysplasia |
What are the genetic changes related to multiple epiphyseal dysplasia ? | Mutations in the COMP, COL9A1, COL9A2, COL9A3, or MATN3 gene can cause dominant multiple epiphyseal dysplasia. These genes provide instructions for making proteins that are found in the spaces between cartilage-forming cells (chondrocytes). These proteins interact with each other and play an important role in cartilage... | multiple epiphyseal dysplasia |
Is multiple epiphyseal dysplasia inherited ? | Multiple epiphyseal dysplasia can have different inheritance patterns. This condition can be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cas... | multiple epiphyseal dysplasia |
What are the treatments for multiple epiphyseal dysplasia ? | These resources address the diagnosis or management of multiple epiphyseal dysplasia: - Cedars-Sinai Medical Center - Gene Review: Gene Review: Multiple Epiphyseal Dysplasia, Dominant - Gene Review: Gene Review: Multiple Epiphyseal Dysplasia, Recessive - Genetic Testing Registry: Multiple epiphyseal dysplasia 1 - ... | multiple epiphyseal dysplasia |
What is (are) congenital sucrase-isomaltase deficiency ? | Congenital sucrase-isomaltase deficiency is a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains) are called disaccharides ... | congenital sucrase-isomaltase deficiency |
How many people are affected by congenital sucrase-isomaltase deficiency ? | The prevalence of congenital sucrase-isomaltase deficiency is estimated to be 1 in 5,000 people of European descent. This condition is much more prevalent in the native populations of Greenland, Alaska, and Canada, where as many as 1 in 20 people may be affected. | congenital sucrase-isomaltase deficiency |
What are the genetic changes related to congenital sucrase-isomaltase deficiency ? | Mutations in the SI gene cause congenital sucrase-isomaltase deficiency. The SI gene provides instructions for producing the enzyme sucrase-isomaltase. This enzyme is found in the small intestine and is responsible for breaking down sucrose and maltose into their simple sugar components. These simple sugars are then ab... | congenital sucrase-isomaltase deficiency |
Is congenital sucrase-isomaltase deficiency inherited ? | This condition 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 symptoms of the condition. | congenital sucrase-isomaltase deficiency |
What are the treatments for congenital sucrase-isomaltase deficiency ? | These resources address the diagnosis or management of congenital sucrase-isomaltase deficiency: - Genetic Testing Registry: Sucrase-isomaltase deficiency - MedlinePlus Encyclopedia: Abdominal bloating - MedlinePlus Encyclopedia: Inborn errors of metabolism - MedlinePlus Encyclopedia: Malabsorption These resource... | congenital sucrase-isomaltase deficiency |
What is (are) X-linked adrenal hypoplasia congenita ? | X-linked adrenal hypoplasia congenita is a disorder that mainly affects males. It involves many hormone-producing (endocrine) tissues in the body, particularly a pair of small glands on top of each kidney called the adrenal glands. These glands produce a variety of hormones that regulate many essential functions in the... | X-linked adrenal hypoplasia congenita |
How many people are affected by X-linked adrenal hypoplasia congenita ? | X-linked adrenal hypoplasia congenita is estimated to affect 1 in 12,500 newborns. | X-linked adrenal hypoplasia congenita |
What are the genetic changes related to X-linked adrenal hypoplasia congenita ? | Mutations in the NR0B1 gene cause X-linked adrenal hypoplasia congenita. The NR0B1 gene provides instructions to make a protein called DAX1. This protein plays an important role in the development and function of several hormone-producing (endocrine) tissues including the adrenal glands, two hormone-secreting glands in... | X-linked adrenal hypoplasia congenita |
Is X-linked adrenal hypoplasia congenita inherited ? | This condition is inherited in an X-linked recessive pattern. 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. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the co... | X-linked adrenal hypoplasia congenita |
What are the treatments for X-linked adrenal hypoplasia congenita ? | These resources address the diagnosis or management of X-linked adrenal hypoplasia congenita: - Gene Review: Gene Review: X-Linked Adrenal Hypoplasia Congenita - Genetic Testing Registry: Congenital adrenal hypoplasia, X-linked - MedlinePlus Encyclopedia: Adrenal Glands - MedlinePlus Encyclopedia: Hypogonadotropic ... | X-linked adrenal hypoplasia congenita |
What is (are) osteoglophonic dysplasia ? | Osteoglophonic dysplasia is a condition characterized by abnormal bone growth that leads to severe head and face (craniofacial) abnormalities, dwarfism, and other features. The term osteoglophonic refers to the bones (osteo-) having distinctive hollowed out (-glophonic) areas that appear as holes on x-ray images. Prem... | osteoglophonic dysplasia |
How many people are affected by osteoglophonic dysplasia ? | Osteoglophonic dysplasia is a rare disorder; its prevalence is unknown. Only about 15 cases have been reported in the medical literature. | osteoglophonic dysplasia |
What are the genetic changes related to osteoglophonic dysplasia ? | Osteoglophonic dysplasia is caused by mutations in the FGFR1 gene, which provides instructions for making a protein called fibroblast growth factor receptor 1. This protein is one of four fibroblast growth factor receptors, which are related proteins that bind (attach) to other proteins called fibroblast growth factors... | osteoglophonic dysplasia |
Is osteoglophonic dysplasia 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. However, some affected individuals inherit the mu... | osteoglophonic dysplasia |
What are the treatments for osteoglophonic dysplasia ? | These resources address the diagnosis or management of osteoglophonic dysplasia: - Genetic Testing Registry: Osteoglophonic dysplasia - Seattle Children's Hospital: Dwarfism and Bone Dysplasias These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Dia... | osteoglophonic dysplasia |
What is (are) hypochondroplasia ? | Hypochondroplasia is a form of short-limbed dwarfism. This condition affects the conversion of cartilage into bone (a process called ossification), particularly in the long bones of the arms and legs. Hypochondroplasia is similar to another skeletal disorder called achondroplasia, but the features tend to be milder. A... | hypochondroplasia |
How many people are affected by hypochondroplasia ? | The incidence of hypochondroplasia is unknown. Researchers believe that it may be about as common as achondroplasia, which occurs in 1 in 15,000 to 40,000 newborns. More than 200 people worldwide have been diagnosed with hypochondroplasia. | hypochondroplasia |
What are the genetic changes related to hypochondroplasia ? | About 70 percent of all cases of hypochondroplasia are 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. Although it remains unclear how FGFR3 mutations lead to the features of hypochondroplasia, rese... | hypochondroplasia |
Is hypochondroplasia inherited ? | Hypochondroplasia 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 people with hypochondroplasia have average-size parents; these cases result from a new mutation in the FGFR3 gene. In the remaining cases, people with hypochon... | hypochondroplasia |
What are the treatments for hypochondroplasia ? | These resources address the diagnosis or management of hypochondroplasia: - Gene Review: Gene Review: Hypochondroplasia - Genetic Testing Registry: Hypochondroplasia - MedlinePlus Encyclopedia: Lordosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditio... | hypochondroplasia |
What is (are) Refsum disease ? | Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of other signs and symptoms. The vision loss associated with Refsum disease is caused by an eye disorder called retinitis pigmentosa. This disorder affects the retina, the light-sensitive layer at t... | Refsum disease |
How many people are affected by Refsum disease ? | The prevalence of Refsum disease is unknown, although the condition is thought to be uncommon. | Refsum disease |
What are the genetic changes related to Refsum disease ? | More than 90 percent of all cases of Refsum disease result from mutations in the PHYH gene. The remaining cases are caused by mutations in a gene called PEX7. The signs and symptoms of Refsum disease result from the abnormal buildup of a type of fatty acid called phytanic acid. This substance is obtained from the diet... | Refsum disease |
Is Refsum disease inherited ? | This condition 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 symptoms of the condition. | Refsum disease |
What are the treatments for Refsum disease ? | These resources address the diagnosis or management of Refsum disease: - Gene Review: Gene Review: Refsum Disease - Gene Review: Gene Review: Retinitis Pigmentosa Overview - Genetic Testing Registry: Phytanic acid storage disease - MedlinePlus Encyclopedia: Retinitis Pigmentosa These resources from MedlinePlus of... | Refsum disease |
What is (are) Noonan syndrome ? | Noonan syndrome is a condition that affects many areas of the body. It is characterized by mildly unusual facial characteristics, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. People with Noonan syndrome have distinctive facial features such as a deep groov... | Noonan syndrome |
How many people are affected by Noonan syndrome ? | Noonan syndrome occurs in approximately 1 in 1,000 to 2,500 people. | Noonan syndrome |
What are the genetic changes related to Noonan syndrome ? | Mutations in the PTPN11, SOS1, RAF1, KRAS, NRAS and BRAF genes cause Noonan syndrome. Most cases of Noonan syndrome result from mutations in one of three genes, PTPN11, SOS1, or RAF1. PTPN11 gene mutations account for approximately 50 percent of all cases of Noonan syndrome. SOS1 gene mutations account for 10 to 15 pe... | Noonan syndrome |
Is Noonan syndrome 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. | Noonan syndrome |
What are the treatments for Noonan syndrome ? | These resources address the diagnosis or management of Noonan syndrome: - Gene Review: Gene Review: Noonan Syndrome - Genetic Testing Registry: Noonan syndrome - Genetic Testing Registry: Noonan syndrome 1 - Genetic Testing Registry: Noonan syndrome 2 - Genetic Testing Registry: Noonan syndrome 3 - Genetic Testin... | Noonan syndrome |
What is (are) Lujan syndrome ? | Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and certain physical features. It occurs almost exclusively in males. The intellectual disability associated with Lujan syndrome is usually mild to moderate. Behavioral problems can include hyperactivity, aggressiveness, extre... | Lujan syndrome |
How many people are affected by Lujan syndrome ? | Lujan syndrome appears to be an uncommon condition, but its prevalence is unknown. | Lujan syndrome |
What are the genetic changes related to Lujan syndrome ? | Lujan syndrome is caused by at least one mutation in the MED12 gene. This gene provides instructions for making a protein that helps regulate gene activity; it is involved in many aspects of early development. The MED12 gene mutation that causes Lujan syndrome changes a single protein building block (amino acid) in the... | Lujan syndrome |
Is Lujan syndrome inherited ? | This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have t... | Lujan syndrome |
What are the treatments for Lujan syndrome ? | These resources address the diagnosis or management of Lujan syndrome: - Gene Review: Gene Review: MED12-Related Disorders - Genetic Testing Registry: X-linked mental retardation with marfanoid habitus syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health c... | Lujan syndrome |
What is (are) Amish lethal microcephaly ? | Amish lethal microcephaly is a disorder in which infants are born with a very small head and underdeveloped brain. Infants with Amish lethal microcephaly have a sloping forehead and an extremely small head size. They may also have an unusually small lower jaw and chin (micrognathia) and an enlarged liver (hepatomegaly... | Amish lethal microcephaly |
How many people are affected by Amish lethal microcephaly ? | Amish lethal microcephaly occurs in approximately 1 in 500 newborns in the Old Order Amish population of Pennsylvania. It has not been found outside this population. | Amish lethal microcephaly |
What are the genetic changes related to Amish lethal microcephaly ? | Mutations in the SLC25A19 gene cause Amish lethal microcephaly. The SLC25A19 gene provides instructions for producing a protein that is a member of the solute carrier (SLC) family of proteins. Proteins in the SLC family transport various compounds across the membranes surrounding the cell and its component parts. The ... | Amish lethal microcephaly |
Is Amish lethal microcephaly inherited ? | This condition 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 symptoms of the condition. | Amish lethal microcephaly |
What are the treatments for Amish lethal microcephaly ? | These resources address the diagnosis or management of Amish lethal microcephaly: - Gene Review: Gene Review: Amish Lethal Microcephaly - Genetic Testing Registry: Amish lethal microcephaly - MedlinePlus Encyclopedia: Microcephaly These resources from MedlinePlus offer information about the diagnosis and managemen... | Amish lethal microcephaly |
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