Neurofibromatosis (NF) is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin. Tumors, or neurofibromas, grow along the body's nerves or on or underneath the skin. Scientists have classified NF into two distinct types: neurofibromatosis type 1 (NF1) and NF2 NF1/NF2: Approximately half of individuals with NF1 or NF2 inherit the condition from one of their parents. The other half develop it as the result of a spontaneous (also called new or de novo) change in one of the NF genes in the egg cell or sperm cell during conception. Both NF1 and NF2 follow autosomal dominant inheritance Neurofibromatosis type 1 (NF1) and type 2 (NF2) are neurocutaneous disorders inherited as autosomal dominant genetic syndromes. Autosomal dominant genetic transmission indicates that one copy of.. Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a multisystem neurocutaneous disorder, the most common phakomatosis, and a RASopathy. Additionally, it is also one of the most common inherited CNS disorders, autosomal dominant disorders, and inherited tumor syndromes Neurofibromatosis type 2 is considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the NF2 gene in each cell. In about half of cases, the altered gene is inherited from an affected parent
Neurofibromatosis (NF) is a group of three conditions in which tumors grow in the nervous system. The three types are neurofibromatosis type I (NF1), neurofibromatosis type II (NF2), and schwannomatosis. In NF1 symptoms include light brown spots on the skin, freckles in the armpit and groin, small bumps within nerves, and scoliosis Neurofibromatosis is caused by genetic defects (mutations) that either are passed on by a parent or occur spontaneously at conception. The specific genes involved depend on the type of neurofibromatosis: NF1. The NF1 gene is located on chromosome 17. This gene produces a protein called neurofibromin that helps regulate cell growth
Neurofibromatosis 1 (NF1) is the most common of the three conditions. Although many people with NF1 inherit the gene that causes the condition, between 30 and 50 percent of cases arise from a spontaneous genetic mutation in the NF1 gene. Once this mutation has occurred, the abnormal gene can be inherited On exam, 7-8 uniformly hyperpigmented macules are noted on the chest, back, and buttock. There is freckling in the axilla and inguinal region. Introduction. Neurofibromatosis type I (von Reckli nghausen disease) most common type of neurofibromatosis. autosomal dominant inheritance. mutation in NF1 gene on chromosome 17 Neurofibromatosis type 2 is caused by a change in the NF2 gene located on chromosome 22. This gene encodes a protein known as merlin. Mutations in the NF2 gene disrupt the function of merlin, which is part of a complex molecular signaling pathway that regulates how cells grow and divide.. Inherited Mutations. All people have two copies of every gene - one copy inherited from each parent The central or type II form of neurofibromatosis (NF2) is an autosomal dominant multiple neoplasia syndrome characterized by tumors of the eighth cranial nerve (usually bilateral), meningiomas of the brain, and schwannomas of the dorsal roots of the spinal cord A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present
Neurofibromatoses (NF) comprise a number of clinically and genetically distinct inherited conditions that carry a high risk of tumor formation.They fall under the wider classification of phakomatoses.The tumors particularly involve the central and peripheral nervous systems: neurofibromatosis type Neurofibromatosis (NF) is a term used to describe two completely separate genetic conditions - NF1 and NF2. These two types of neurofibromatosis are caused by different faulty genes, which may be inherited or may have spontaneously changed (mutated) at conception Although neurofibromatosis 1 (NF1) is a common Mendelian disorder with autosomal-dominant inheritance, its expression is highly variable and unpredictable. Many NF1 patients have been genotyped but few allele-phenotype correlations have been identified. NF1 genotype-phenotype correlations are diffic These tumors can be small or large and can occur anywhere in the body, including the brain, spinal cord, large nerves, or smaller nerves. NF affects persons of both sexes and all racial groups. There are 2 types of neurofibromatosis, called NF1 and NF2. These are 2 distinct disorders that are caused by mutations (changes) in different genes. NF1 is also referred to as von Recklinghausen disease and is a rather common genetic disease, affecting approximately 1 in 3000 individuals
Neurofibromatosis (NF) is a term that has been applied to a variety of related syndromes, characterized by neuroectodermal tumors arising within multiple organs and autosomal-dominant inheritance. Neurofibromatosis type I (NF-1), known as well as Recklinghausen's disease, is the most common type of the disease accounting 90% of the cases Neurofibromatosis is often inherited (passed on by family members through your genes). But about 50% of people newly diagnosed with the disorder have no family history of the condition Neurofibromatosis (NF) is one of the most common genetic disorders. Inherited in an autosomal dominant fashion, this phacomatosis is classified into two genetically distinct subtypes characterized by multiple cutaneous lesions and tumors of the peripheral and central nervous system. Neurofibromatosis type 1 (NF1), also referred to as Recklinghausen's disease, affects about 1 in 3500.
Inheritance of NF. NF1/NF2: Approximately half of individuals with NF1 or NF2 inherit the condition from one of their parents. The other half develop it as the result of a spontaneous (also called new or de novo) change in one of the NF genes in the egg cell or sperm cell during conception Inheritance Neurofibromatosis can be inherited through your families genes, mostly between autosomal dominance genes. Autosomal dominance is where you have a heterozygous affected father and a homozygous non-affected mother, and you get a 1:1 ratio of having Neurofibromatosis Gene mutations may be inherited from a parent, or occur for the first time in an individual. Once you have a gene mutation however, it may be passed on to future generations. This is referred to as genetic inheritance. HOW IS NEUROFIBROMATOSIS TYPE 1 INHERITED? Everyone has two copies of each of our genes, one inherited from our mother and the. Neurofibromatosis, also known as NF, is a genetic disorder that affects 1 in every 3,000 people. There are three types of NF: NF1, NF2, and schwannomatosis. Neurofibromatosis type 1 (NF1), formerly known as von Recklinghausen NF or Peripheral NF, is the most common of the three types of neurofibromatosis, and is also one of the most common inherited neurological disorders, affecting about 1 in. Neurofibromatosis (NF) is a term that has been applied to a variety of related syndromes, characterized by neuroectodermal tumors arising within multiple organs and autosomal-dominant inheritance. Neurofibromatosis type I (NF-1), known as well as Recklinghausen's disease, is the most common type of the disease accounting 90% of the cases
For assistance with making an appointment, please contact the Johns Hopkins Comprehensive Neurofibromatosis Center at 410-502-6732. Request an Appointment. Adult Neurology: 410-955-9441 Pediatric Neurology: 410-955-4259 Adult Neurosurgery: 410-955-6406 Pediatric Neurosurgery: 410-955-733 Nomenclature and history. Neurofibromatosis type 1 (NF1; OMIM 613113), inherited in an autosomal dominant pattern, is characterized by multiple café-au-lait macules (CALMs), skinfold freckling. Almost all patients with neurofibromatosis type 1 (Cell Stem Cell 2009;4:453) Inherited (diffuse and plexiform variants) Close associations with neurofibromatosis type 1. Symptoms in patients with neurofibromatosis type 1 include chronic pain, disfigurement, stigma and anxiety (Am J Med Genet A 2017;173:79
Neurofibromatosis type 2 is considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the NF2 gene in each cell. In about half of cases, the altered gene is inherited from an affected parent. The remaining cases result from new mutations in the NF2 gene and occur in people with no history of the disorder in their family Introduction. Neurofibromatosis type 1 (NF1) is 1 of the most common inherited genetic conditions, affecting approximately 1 in 3000 individuals. 1 NF1 is a multisystem disorder in which some features may be present at birth but most are age-related manifestations. Since the publication of the article Health Supervision for Children With Neurofibromatosis, the health supervision and.
Neurofibromatosis (NF) is a genetic disorder that affects the bone, soft tissue, skin and nervous system. Clinical manifestations increase over time. At least 8 different clinical phenotypes of NF have been identified. It is classified into 2 distinct types: Neurofibromatosis 1 (NF1) Neurofibromatosis 2 (NF2) Neurofibromatosis 2 is a dominantly inherited tumor predisposition syndrome caused by mutations in the NF2 gene on chromosome 22. Affected individuals inevitably develop schwannomas typically. There are inherited schwannomas (vestibular tumours), typically bilateral, but also meningiomas and ependymomas. The implicated mutation is on chromosome 22 at gene locus 22q12.2. Schwannomatosis is a recently recognised form of neurofibromatosis, characterised by multiple non-cutaneous schwannomas, that is an histologically benign nerve sheath. Neurofibromatosis type 1 is a relatively common inherited disorder. Patients have a high predisposition to develop both benign and malignant tumours. Although many manifestations of neurofibromatosis type 1 affect the nervous system, other organs and tissues can also be affected. Because of the varying features and clinical heterogeneity inherent to this disorder, patients can present to.
Neurofibromatosis type 1 (NF1) is a genetic condition that causes tumours to grow along your nerves. The tumours are usually non-cancerous (benign) but may cause a range of symptoms. Neurofibromatosis type 2 (NF2) is much less common than NF1. It's covered separately as it has different symptoms and causes Neurofibromatosis is a genetic disorder that is typically diagnosed in childhood or early adulthood. This disorder can cause tumors to develop in the nervous system, including the brain, spinal cord and nerves. In most cases, these tumors are benign and slow-growing #Neurofibromatosis #Inheritance Probability November 12th, 2011 at 8:58PM Neurofibromatosis is amongst the more common genetic conditions (L'Association de la neurofibromatose du Québec, 2011), with an estimation of 100,000 American patients living with NF (National Institute of Neurological Disorders and Stroke, 2011), and 10,000 Canadians (L. Neurofibromatosis (NF), a type of phakomatosis or syndrome with neurological and cutaneous manifestations, is a rare genetic disorder that typically causes benign tumors of the nerves and growths in other parts of the body, including the skin. Some people with this disorder have barely noticeable neurological problems, while others are affected. Neurofibromatosis (NF) is one of the most common genetic disorders. Inherited in an autosomal dominant fashion, this phacomatosis is classified into two genetically distinct subtypes characterized.
Neurofibromatosis is a rare inherited disorder that results in benign tumors of the nerves and other parts of the body. Symptoms of this disease range from being virtually unnoticeable to causing neurologic problems or bone defects that affect the skull and spine Although neurofibromatosis 1 (NF1) is a common Mendelian disorder with autosomal-dominant inheritance, its expression is highly variable and unpredictable. Many NF1 patients have been genotyped but few allele-phenotype correlations have been identified. NF1 genotype-phenotype correlations are difficult to identify because of the complexity of the NF1 phenotype, its strong age dependency, the. Type II neurofibromatosis is an autosomal dominant disorder caused by mutations in the NF2 gene (22q12.2) which encodes neurofibromin-2, sometimes called merlin or schwannomin. This protein product, like neurofibromin in type I (), functions as a tumor suppressor. New mutations are responsible for approximately half of cases Neurofibromatosis type 1 (NF1) is the most common type of neurofibromatosis, affecting about one in 3,000 people. Neurofibromatosis type 2 (NF2) is less common, affecting about one in 35,000 people. Despite sharing the same name, the two types of neurofibromatosis are separate conditions that have different causes and symptoms Neurofibromatosis type 2 is a much rarer inherited disease marked by tumours of the auditory canal in the ear and by small numbers of café-au-lait spots. Neurofibromatosis 1 is passed on as an autosomal dominant trait , and the child of someone with the disease has a 50-percent chance of developing it
Neurofibromatosis 1 (NF1) is an inherited, fully penetrant autosomal-dominant, tumor predisposition syndrome with a birth incidence as high as 1:2000 [1, 2].It is caused by mutations in the NF1 gene on chromosome 17 which encodes neurofibromin, a tumor suppressor protein [3, 4].NF1 affects multiple systems with cutaneous, neurologic, and orthopedic as major manifestations which lead to. Neurofibromatosis Videos, Flashcards, High Yield Notes, & Practice Questions. Learn and reinforce your understanding of Neurofibromatosis. - Osmosis is an efficient, enjoyable, and social way to learn. Sign up for an account today! Don't study it, Osmose it Neurofibromatosis: an update of ophthalmic characteristics and applications of optical coherence tomography. Abstract: Neurofibromatosis (NF) is a multisystem disorder and tumor predisposition syndrome caused by genetic mutation on chromosome 17-17q11.2 in NF type 1 (NF1), and on chromosome 22-22q12.2 in NF type 2 Symptoms of the following disorders can be similar to those of neurofibromatosis 2. Comparisons may be useful for a differential diagnosis: Neurofibromatosis 1 (NF1) Neurofibromatosis1 (NF1) is a rare inherited disorder of the nervous system and is characterized by the development of tumors on the covering of nerves Correct answer to the question Which of these is not a genetically inherited disease a)sickle cell b)neurofibromatosis c)cystic fibrosis d)all of these are inherited e)none of these are inherited - e-eduanswers.co
Neurofibromatosis 1 (NF1) and neurofibromatosis 2 (NF2) are inherited autosomal dominant disorders that have a significant impact on the nervous system and predispose to tumour formation. The current nomenclature makes NF1 and NF2 awkward bedfellows because they are clinically and genetically separate disorders. Neurofibromas are characteristic of NF1, a common condition with major skin. Neurofibromatosis type 1 is an autosomal dominant disorder. Therefore, only one copy of a mutated or deleted gene will lead to the disease. It affects males and females equally. It has near complete penetrance when the mutation is inherited; however, the observable clinical characteristics can vary among patients Neurofibromatosis is a genetic condition characterised by the growth of benign tumours. There are 3 types: neurofibromatosis type 1, type 2 and schwannomatosis. A common sign is 'café au lait' spots, harmless coffee-coloured skin patches, and a common presentation is having vision problems. Neurofibromatosis is usually diagnosed in childhood What causes neurofibromatosis 1? Inheritance of NF1. NF1 is an autosomal dominant gene. This means that: Even though each child inherits two NF1 genes (one from each parent), if only one of them has a mutation, the child will have the condition. If a parent has the mutation, there is a 50% chance that any child of theirs can have it, too Neurofibromatosis 1 (NF1), also called von Recklinghausen's disease, is a genetic disorder characterized by the development of multiple noncancerous (benign) tumors of nerves and skin (neurofibromas) and areas of abnormal skin color (pigmentation). Areas of abnormal skin pigmentation typically include pale tan or light brown discolorations.
The affected siblings, with a clinically severe form of neurofibromatosis type 1, showed no inheritance of paternal alleles for a marker in intron 38 of the NF1 gene, whereas they received alleles. <p>Neurofibromatosis Type 1 (NF1) occurs because of a mutation to the NF1 gene. About half of cases are spontaneous mutations, while the other half are inherited from a parent to a child.</p>
Approximately 50 percent of people with neurofibromatosis type 1 inherited an altered copy of the nf1 gene from a parent who also has neurofibromatosis type 1. In the remaining 50 percent of people, neurofibromatosis type 1 resulted from the development of a new mutation in the nf1 gene in the father's sperm, mother's eggs, or in a. Neurofibromatosis and inheritance; 2 Replies. AshleysDad. January 31, 2016 at 8:28 am. Three sisters who were affected with intestinal neurofibromatosis in an autosomal dominant pattern of inheritance, without other manifestations of neurofibromatosis 1 (NF1) or neurofibromatosis 2 (NF2), underwent genetic screening, and a PDGFRA Y555C mutation, located in the juxta-membrane domain, was identified. The similarity of these tumors. NF1 is the most commonly occurring type of neurofibromatosis. Although it is an inherited gene disorder it can even occur in families which have had no history of neurofibromatosis. Symptoms of NF1 appear soon after birth of the child. They are visible in the form of spots and marks on the skin, and some type of bone deformities
Neurofibromatosis type 1 (NF1) (MIM #162200) [] is a common familial cancer syndrome with a prevalence of 1 in 2,500 [] and an autosomal dominant inheritance pattern; it is fully penetrant by 5 years of age.NF1 is a complex disorder that affects many cell types and involves multiple body systems [].The clinical phenotypic expression in NF1 is characterized by marked intra and interfamilial. Schwannomatosis is a genetic condition, however, its inheritance pattern is much less clear than for both Neurofibromatosis type 1 and 2. Some cases of schwannomatosis are thought to be caused by a mutation in the SMARCB1 gene. Symptoms. Symptoms for NF1 include: malformation or enlargement of bones in the skeletal system Inheritance pattern of an autosomal dominant disorder, such as neurofibromatosis, is shown in a Punnett square. Other genetic diseases that are inherited in this pattern are achondroplastic dwarfism, Marfan syndrome, and Huntington's disease Neurofibromatosis type 1 (NF1) is a hereditary condition commonly associated with multiple café-au-lait spots on the skin. Café-au-lait spots are light brown in color, like the color of coffee with milk.. About 10% to 25% of the general population has café-au-lait spots; NF1 is suspected when a person has 6 or more
Neurofibromatosis 1 (NF1) is a common neurocutaneous condition with an autosomal dominant pattern of inheritance. The complications are diverse and disease expression varies, even within families. Progress in molecular biology and neuroimaging and the development of mouse models have helped to elucidate the aetiology of NF1 and its clinical. Depending on the segment affected, the risk to offspring may be very much lower than the 50% risk for generalized disease. Other 'incomplete' forms of neurofibromatosis may involve balanced translocations, and may be familial with dominant inheritance patterns. A wide variety of clinical pictures has therefore been described and classified Malignant peripheral nerve sheath tumours (MPNST) are rare tumours known to occur at high frequency in neurofibromatosis 1 (NF1), but may also occur in other cancer prone syndromes. The North West Regional Genetic Register covers a population of 4.1 million and was interrogated for incidence of MPNST in 12 cancer prone syndromes. Age, incidence and survival curves were generated for NF1 Allows for specific patterns of inheritance controlled by a single gene pair (monogenic) 4 different types of patterns. autosomal dominant. autosomal recessive. x-linked dominant. Neurofibromatosis (AD, AR) SED (AD, Xlink) Miscellaneous Genetic Inheritance. Imprinting
Neurofibromatosis type 1 is the most common form of neurofibromatosis and one of the most common genetic conditions, arising in 1 in 3,000 births. In about half of people with neurofibromatosis type 1, the disorder is inherited from a parent. In the other half, the disorder is the result of a new, or spontaneous, mutation or loss of a portion. Presenile lens opacities or actual subcapsular cataracts are found in about 50% of affected patients.Inheritance is autosomal-dominant, somatic mutation may occur. synonyms Neurofibromatosis Generalisata (von Recklinghausen) , Recklingshausen's Disease, Neurofibromatosis Neurofibromatosis (NF) is a genetic disorder. It affects your nervous system and nerve cells. The condition produces tumors on your nerves. They appear from abnormal cell production. The tumors can be underneath or on your skin. Most tumors formed from NF are benign (non-cancerous). However, some can lead to cancer (See Neurofibromatosis type 2 and Schwannomatosis.) EPIDEMIOLOGY. NF1 is an autosomal-dominant genetic disorder with an incidence of approximately 1:2600 to 3000 individuals . Approximately one-half of the cases are familial (inherited) The de novo mutations occur primarily in paternally derived chromosomes
Von Willebrand disease, Huntington's disease, hereditary nonpolyposis colorectal cancer, Marfan syndrome, neurofibromatosis type 1 and 2, hereditary multiple exostoses (a highly penetrant autosomal dominant trait disorder), tuberous sclerosis, and acute intermittent porphyria are all examples of this type of dominant genetic disorders group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas; neurofibromatosis 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., neurofibromatosis 2, neurofibromatosis 3. Neurofibromatosis Type 1 (NF1) • Multiple neurofibromas; pigmented skin lesions; pigmented iris hamartomas (Lisch nodules); plus a variety of other abnormalities • Incidence of at least 1:3000 • Autosomal dominant trait with complete penetrance • ~50% of cases are sporadic • Mutation rate 1/10,000 gametes; the highest observed.
Neurofibromatosis is a group of genetic disorders in which many soft, fleshy growths of nerve tissue (neurofibromas) form under the skin and in other parts of the body, and flat spots that are the color of coffee with milk (café-au-lait spots) often develop on the skin. Neurofibromatosis is caused by mutations in certain genes NF is a genetic disorder caused by an abnormal gene in your body. NF is not contagious, which means you can't catch it from other people. Instead, you can inherit an abnormal gene that causes NF from one of your parents. Or, NF can be caused by a spontaneous gene mutation. There are two main types of NF Neurofibromatosis type 1 (NF1) is inherited in an autosomal dominant manner and is a rather common rare disease. Until recently, studies on gastrointestinal symptoms in patients with NF1 have been.
Neurofibromatosis type 1 is a congenital condition caused by a mutation in the NF1 gene. Genes function by providing genetic blue-prints that instruct the development, function. What causes neurofibromatosis? As a genetic condition, the onset of NF is layered. It is often inherited (or passed on by parents through the genes), but recent cases have shown that it may occur spontaneously in people — with no family history of the gene — at conception due to gene mutations
These disorders (NF1, neurofibromatosis type 2, tuberous sclerosis, Sturge-Weber syndrome, and neurocutaneous melanosis) have selective involvement of tissues of ectodermal origin (central nervous system, eye, and skin). All of these disorders, with the exception of Sturge-Weber syndrome, have an autosomal dominant inheritance pattern Neurofibromatosis type 1, is a genetic disorder that can affect many areas of the body, including the skin, eyes, bones, blood vessels, nerves and central nervous system, and increases the risk for developing certain kinds of cancerous and non-cancerous tumors Neurofibromatosis 1 is a multisystem disorder that primarily involves the skin and nervous system. Its population prevalence is 1 in 3500. The condition usually is recognized in early childhood, when cutaneous manifestations are apparent. Although neurofibromatosis 1 is associated with marked clinical variability, most affected children do well from the standpoint of their growth and development
Neurofibromatosis is an inherited disorder of the nervous system in which tumors develop on nerves, leading to a range of complications. Neurofibromas are usually non-cancerous and grow on the. Medical Informaiton. Neurofibromatosis is simply a disease that is caused from a mutaion in the NF1 gene. This gene codes for the making neurofibromin. This protine is in many cells throughout the body and is responsible for supressing tumors. Since this gene is mutated the body is not able to subress these tumors Neurofibromatosis t type 1 and 2: Y-linked inheritance คือ การถ่ายทอดลักษณะทางพันกรรมบนโครโมโซมเพศชนิด Y กล่าวคือเพศชายเท่านั้นที่จะแสดงลักษณะผิดปกตินี้. Neurofibromatosis is usually inherited, but up to half of cases occur because of spontaneous changes (mutations) within a person's genes. Once a mutation occurs, the changed (mutant) gene can then be passed on to succeeding generations. The child of a parent with neurofibromatosis has a 50% chance of inheriting the disorder
Neurofibromatosis type I neurofibroma: axillary freckles and café-au-lait spot: Café-au-lait spots: There are multiple café-au-lait spots and neurofiborma. There are also multiple freckles at the axilla. What is the inheritance of neurofibromatosis? 2. What criteria are needed for the diagnosis of neurofibromatosis type I?. Neurofibromatosis is an inherited genetic condition that leads to the development of nerve tissue tumors in several body areas. These tumors manifest in broad and diverse ways and while most are noncancerous, they may press on nerves and other tissues, resulting in pain, scoliosis of the spine, learning disabilities, vision and hearing loss and. Neurofibromatosis is caused by genetic mutations that are passed from parent to child or that occur spontaneously at conception. About half of people with NF1 and NF2 inherited it. Type 1 (NF1): The most common type, NF1 causes skin changes and deformed bones and usually starts at birth Neurofibromatosis type 2 is a genetic condition that mainly affects the nervous system. People with Neurofibromatosis type 2 are at increased risk to develop tumors within their nerves. The most common type of tumor in people with Neurofibromatosis type 2 is vestibular schwannoma (also known as acoustic neuroma)
Multifactorial inheritance means that many factors (multifactorial) are involved in causing a birth defect. The factors are usually both genetic and environmental, where a combination of genes from both parents, in addition to unknown environmental factors, produce the trait or condition. Often one gender (either males or females) is affected. Causes of Neurofibromatosis Type 2. NF2 is caused by a genetic mutation found on chromosome 22. That mutation can be inherited, or it can occur in people without a family history. About half of all people with NF2 inherited the condition from a parent. There is an up to 50 percent chance that someone with NF2 will pass on the mutation to a child Neurofibromatosis type 2 (NF2) is a hereditary condition most commonly associated with bilateral vestibular schwannomas, also known as acoustic neuromas. These are benign (noncancerous) tumors that occur on the nerves for balance and hearing leading to the inner ear Neurofibromatosis type 1 (NF1) is a neurocutanous-skeletal syndrome caused by mutations in the NF1 tumor suppressor gene located at 17q11.2 [].NF1 is one of the most common rare diseases with a birth incidence of ∼ 1:2000, and prevalence of ~ 1:2000-1:3000 [2, 3].The inheritance follows an autosomal dominant trait with highly variable phenotypic expression [4, 5]
