Costello Syndrome
Facies
Noonan Syndrome
Abnormalities, Multiple
Failure to Thrive
Intellectual Disability
Proto-Oncogene Proteins p21(ras)
Chondroitin ABC Lyase
Tropoelastin
Genes, ras
Biglycan
Germ-Line Mutation
Mosaicism
Heart Defects, Congenital
Chondroitin Sulfates
LEOPARD Syndrome
Rhabdomyosarcoma
Rhabdomyosarcoma, Embryonal
Liposarcoma
Rhabdomyosarcoma, Alveolar
Sarcoma
Soft Tissue Neoplasms
Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome. (1/17)
(+info)Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation. (2/17)
(+info)Enhanced human brain associative plasticity in Costello syndrome. (3/17)
(+info)The hyperthermia-enhanced association between tropoelastin and its 67-kDa chaperone results in better deposition of elastic fibers. (4/17)
(+info)Bone resorption in syndromes of the Ras/MAPK pathway. (5/17)
(+info)Noonan syndrome and clinically related disorders. (6/17)
(+info)Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies. (7/17)
(+info)Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. (8/17)
(+info)Costello Syndrome is a rare genetic disorder characterized by distinctive facial features, cardiac defects, developmental delay, and intellectual disability. It is caused by mutations in the HRAS gene, which provides instructions for making a protein that is part of a signaling pathway known as the Ras/MAPK pathway, involved in cell growth, division, and survival.
The symptoms of Costello Syndrome can vary widely among affected individuals, but common features include:
* A characteristic facial appearance with full cheeks, wide-spaced eyes, a broad nasal bridge, and a prominent forehead
* Loose, wrinkled skin around the hands and feet
* Curved pinky fingers (clinodactyly)
* Extra skin on the soles of the feet (plantar keratosis)
* Heart defects, such as hypertrophic cardiomyopathy or pulmonary stenosis
* Developmental delay and intellectual disability
* A predisposition to developing certain types of cancer, particularly rhabdomyosarcoma and bladder carcinoma
Costello Syndrome is typically diagnosed based on a combination of clinical features, genetic testing, and family history. There is no cure for the condition, but management is focused on addressing individual symptoms as they arise. This may include medications to manage heart problems, physical therapy to help with developmental delays, and regular cancer screening.
Skin abnormalities refer to any changes in the skin that deviate from its normal structure, function, or color. These can manifest as various conditions such as lesions, growths, discolorations, or textural alterations. Examples include moles, freckles, birthmarks, rashes, hives, acne, eczema, psoriasis, rosacea, skin cancer, and many others. Some skin abnormalities may be harmless and require no treatment, while others might indicate an underlying medical condition that requires further evaluation and management.
A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.
For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.
It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.
"Facies" is a medical term that refers to the typical appearance of a person or part of the body, particularly the face, which may provide clues about their underlying medical condition or genetic background. A specific facies is often associated with certain syndromes or disorders. For example, a "downsyndrome facies" refers to the distinctive facial features commonly found in individuals with Down syndrome, such as a flattened nasal bridge, almond-shaped eyes, and an upward slant to the eyelids.
It's important to note that while facies can provide valuable diagnostic information, it should be used in conjunction with other clinical findings and genetic testing to make a definitive diagnosis. Additionally, facies should be described objectively and without judgment, as they are simply physical characteristics associated with certain medical conditions.
Noonan Syndrome is a genetic disorder that affects various parts of the body and is characterized by distinctive facial features, short stature, heart defects, and developmental delays. It is caused by mutations in genes responsible for regulating cell growth and division. The syndrome is often identified at birth or in early childhood due to its physical manifestations, which may include widely spaced eyes, low-set ears, a short neck, a broad or webbed neck, chest deformities, and pulmonary valve stenosis. Noonan Syndrome affects both sexes and all races equally, with an estimated prevalence of 1 in 1,000 to 1 in 2,500 live births.
'Abnormalities, Multiple' is a broad term that refers to the presence of two or more structural or functional anomalies in an individual. These abnormalities can be present at birth (congenital) or can develop later in life (acquired). They can affect various organs and systems of the body and can vary greatly in severity and impact on a person's health and well-being.
Multiple abnormalities can occur due to genetic factors, environmental influences, or a combination of both. Chromosomal abnormalities, gene mutations, exposure to teratogens (substances that cause birth defects), and maternal infections during pregnancy are some of the common causes of multiple congenital abnormalities.
Examples of multiple congenital abnormalities include Down syndrome, Turner syndrome, and VATER/VACTERL association. Acquired multiple abnormalities can result from conditions such as trauma, infection, degenerative diseases, or cancer.
The medical evaluation and management of individuals with multiple abnormalities depend on the specific abnormalities present and their impact on the individual's health and functioning. A multidisciplinary team of healthcare professionals is often involved in the care of these individuals to address their complex needs.
"Failure to Thrive" is a medical term used to describe a condition in infants and children who are not growing and gaining weight as expected. It is typically defined as significant deviation from normal growth patterns, such as poor weight gain or loss, slow increase in length/height, and delayed developmental milestones. The condition can have various causes, including medical, psychological, social, and environmental factors. Early identification and intervention are crucial to address the underlying cause and promote healthy growth and development.
Intellectual disability (ID) is a term used when there are significant limitations in both intellectual functioning and adaptive behavior, which covers many everyday social and practical skills. This disability originates before the age of 18.
Intellectual functioning, also known as intelligence, refers to general mental capacity, such as learning, reasoning, problem-solving, and other cognitive skills. Adaptive behavior includes skills needed for day-to-day life, such as communication, self-care, social skills, safety judgement, and basic academic skills.
Intellectual disability is characterized by below-average intelligence or mental ability and a lack of skills necessary for day-to-day living. It can be mild, moderate, severe, or profound, depending on the degree of limitation in intellectual functioning and adaptive behavior.
It's important to note that people with intellectual disabilities have unique strengths and limitations, just like everyone else. With appropriate support and education, they can lead fulfilling lives and contribute to their communities in many ways.
Chondroitin ABC lyase, also known as chondroitinase ABC or chondroitin sulfate eliminase, is an enzyme that breaks down chondroitin sulfate proteoglycans (CSPGs), which are major components of the extracellular matrix in various tissues including cartilage. CSPGs contain chondroitin sulfate chains, which are long, negatively charged polysaccharides composed of alternating sugars (N-acetylgalactosamine and glucuronic acid) with sulfate groups attached at specific positions.
Chondroitin ABC lyase cleaves chondroitin sulfate chains by removing a disaccharide unit from the polymer, resulting in the formation of unsaturated bonds between the remaining sugars. This enzymatic activity has been used in research to study the structure and function of CSPGs and their role in various biological processes, such as cell migration, tissue repair, and neural plasticity. Additionally, chondroitin ABC lyase has potential therapeutic applications for treating conditions associated with excessive accumulation of CSPGs, such as fibrosis and some neurological disorders.
Tropoelastin is the soluble precursor protein of elastin, which is a key component of the extracellular matrix in various tissues. It has the ability to stretch and recoil, providing elasticity to tissues such as lungs, blood vessels, and skin. Tropoelastin is synthesized and secreted by cells, and it undergoes spontaneous self-assembly to form insoluble elastin fibers through the process of cross-linking. The protein contains hydrophobic domains that allow for its elastic properties, as well as binding sites for other matrix proteins.
Ras genes are a group of genes that encode for proteins involved in cell signaling pathways that regulate cell growth, differentiation, and survival. Mutations in Ras genes have been associated with various types of cancer, as well as other diseases such as developmental disorders and autoimmune diseases. The Ras protein family includes H-Ras, K-Ras, and N-Ras, which are activated by growth factor receptors and other signals to activate downstream effectors involved in cell proliferation and survival. Abnormal activation of Ras signaling due to mutations or dysregulation can contribute to tumor development and progression.
Biglycan is a type of small leucine-rich proteoglycan (SLRP) that is found in the extracellular matrix of various tissues, including bone, cartilage, and tendons. It plays important roles in the organization and stabilization of the extracellular matrix, as well as in the regulation of cell behavior and signaling pathways.
Biglycan is composed of a core protein and one or more glycosaminoglycan (GAG) chains, which are long, unbranched polysaccharides made up of repeating disaccharide units. The GAG chains attach to the core protein via specific serine residues, forming a proteoglycan.
In addition to its structural roles, biglycan has been shown to interact with various growth factors and cytokines, modulating their activity and influencing cellular responses such as proliferation, differentiation, and migration. Dysregulation of biglycan expression or function has been implicated in several diseases, including osteoarthritis, cancer, and fibrosis.
A germ-line mutation is a genetic change that occurs in the egg or sperm cells (gametes), and thus can be passed down from parents to their offspring. These mutations are present throughout the entire body of the offspring, as they are incorporated into the DNA of every cell during embryonic development.
Germ-line mutations differ from somatic mutations, which occur in other cells of the body that are not involved in reproduction. While somatic mutations can contribute to the development of cancer and other diseases within an individual, they are not passed down to future generations.
It's important to note that germ-line mutations can have significant implications for medical genetics and inherited diseases. For example, if a parent has a germ-line mutation in a gene associated with a particular disease, their offspring may have an increased risk of developing that disease as well.
Mosaicism, in the context of genetics and medicine, refers to the presence of two or more cell lines with different genetic compositions in an individual who has developed from a single fertilized egg. This means that some cells have one genetic makeup, while others have a different genetic makeup. This condition can occur due to various reasons such as errors during cell division after fertilization.
Mosaicism can involve chromosomes (where whole or parts of chromosomes are present in some cells but not in others) or it can involve single genes (where a particular gene is present in one form in some cells and a different form in others). The symptoms and severity of mosaicism can vary widely, depending on the type and location of the genetic difference and the proportion of cells that are affected. Some individuals with mosaicism may not experience any noticeable effects, while others may have significant health problems.
Congenital heart defects (CHDs) are structural abnormalities in the heart that are present at birth. They can affect any part of the heart's structure, including the walls of the heart, the valves inside the heart, and the major blood vessels that lead to and from the heart.
Congenital heart defects can range from mild to severe and can cause various symptoms depending on the type and severity of the defect. Some common symptoms of CHDs include cyanosis (a bluish tint to the skin, lips, and fingernails), shortness of breath, fatigue, poor feeding, and slow growth in infants and children.
There are many different types of congenital heart defects, including:
1. Septal defects: These are holes in the walls that separate the four chambers of the heart. The two most common septal defects are atrial septal defect (ASD) and ventricular septal defect (VSD).
2. Valve abnormalities: These include narrowed or leaky valves, which can affect blood flow through the heart.
3. Obstruction defects: These occur when blood flow is blocked or restricted due to narrowing or absence of a part of the heart's structure. Examples include pulmonary stenosis and coarctation of the aorta.
4. Cyanotic heart defects: These cause a lack of oxygen in the blood, leading to cyanosis. Examples include tetralogy of Fallot and transposition of the great arteries.
The causes of congenital heart defects are not fully understood, but genetic factors and environmental influences during pregnancy may play a role. Some CHDs can be detected before birth through prenatal testing, while others may not be diagnosed until after birth or later in childhood. Treatment for CHDs may include medication, surgery, or other interventions to improve blood flow and oxygenation of the body's tissues.
Chondroitin sulfates are a type of complex carbohydrate molecules known as glycosaminoglycans (GAGs). They are a major component of cartilage, the tissue that cushions and protects the ends of bones in joints. Chondroitin sulfates are composed of repeating disaccharide units made up of glucuronic acid and N-acetylgalactosamine, which can be sulfated at various positions.
Chondroitin sulfates play a crucial role in the biomechanical properties of cartilage by attracting water and maintaining the resiliency and elasticity of the tissue. They also interact with other molecules in the extracellular matrix, such as collagen and proteoglycans, to form a complex network that provides structural support and regulates cell behavior.
Chondroitin sulfates have been studied for their potential therapeutic benefits in osteoarthritis, a degenerative joint disease characterized by the breakdown of cartilage. Supplementation with chondroitin sulfate has been shown to reduce pain and improve joint function in some studies, although the evidence is not consistent across all trials. The mechanism of action is thought to involve inhibition of enzymes that break down cartilage, as well as stimulation of cartilage repair and synthesis.
LEOPARD syndrome is a rare genetic disorder that is characterized by multiple lentigines (freckle-like spots), electrocardiographic abnormalities, ocular hypertelorism (wide-set eyes), pulmonic stenosis (narrowing of the pulmonary valve opening), abnormal genitalia, retardation of growth, and deafness. It is caused by mutations in the PTPN11 gene, which provides instructions for making a protein called SHP-2. This protein plays important roles in signaling pathways that control various cellular functions, such as cell growth and division. The signs and symptoms of LEOPARD syndrome can vary widely among affected individuals, even among members of the same family. Treatment is typically focused on managing the specific features of the condition in each individual.
Rhabdomyosarcoma is a type of cancer that develops in the body's soft tissues, specifically in the muscle cells. It is a rare and aggressive form of sarcoma, which is a broader category of cancers that affect the connective tissues such as muscles, tendons, cartilages, bones, blood vessels, and fatty tissues.
Rhabdomyosarcomas can occur in various parts of the body, including the head, neck, arms, legs, trunk, and genitourinary system. They are more common in children than adults, with most cases diagnosed before the age of 18. The exact cause of rhabdomyosarcoma is not known, but genetic factors and exposure to radiation or certain chemicals may increase the risk.
There are several subtypes of rhabdomyosarcoma, including embryonal, alveolar, pleomorphic, and spindle cell/sclerosing. The type and stage of the cancer determine the treatment options, which may include surgery, radiation therapy, chemotherapy, or a combination of these approaches. Early diagnosis and prompt treatment are crucial for improving the prognosis and long-term survival rates.
Rhabdomyosarcoma, embryonal is a type of soft tissue sarcoma, which is a cancer that develops in the body's connective tissues, such as muscles, tendons, ligaments, and cartilage. Specifically, embryonal rhabdomyosarcoma is a subtype of rhabdomyosarcoma that arises from cells that are in the process of becoming muscle cells. This type of cancer typically affects children, with most cases diagnosed before the age of 10.
Embryonal rhabdomyosarcoma can develop in various parts of the body, including the head and neck, genitourinary tract (reproductive and urinary organs), and extremities. The tumors are often aggressive and fast-growing, but they can be treated with a combination of surgery, radiation therapy, and chemotherapy.
The medical definition of embryonal rhabdomyosarcoma is: "A malignant neoplasm composed of small, round to avoid cells with hyperchromatic nuclei and scant cytoplasm, often arranged in a loose, fascicular pattern. It arises from primitive muscle cells and typically affects children and adolescents. The tumor can develop in various parts of the body, including the head and neck, genitourinary tract, and extremities."
Liposarcoma is a type of soft tissue sarcoma, which is a cancer that develops in the soft tissues of the body, such as fat, muscle, nerves, blood vessels, and fibrous tissues. Specifically, liposarcoma arises from fat cells (adipocytes) or their precursors.
There are several subtypes of liposarcoma, which differ in their appearance under the microscope, genetic features, and clinical behavior. These include well-differentiated, dedifferentiated, myxoid, round cell, and pleomorphic liposarcomas. The most common sites for liposarcoma are the thigh, retroperitoneum (the area behind the abdominal cavity), and the buttock.
Liposarcomas can grow slowly or rapidly, and they may spread to other parts of the body (metastasize) through the bloodstream or lymphatic system. Treatment typically involves surgical removal of the tumor, often followed by radiation therapy and/or chemotherapy. The prognosis for liposarcoma depends on several factors, including the type and grade of the tumor, its size and location, and whether it has spread to other parts of the body.
Alveolar Rhabdomyosarcoma (ARMS) is a type of soft tissue sarcoma, which is a rare cancer that affects the muscles and connective tissues. ARMS is characterized by the presence of specific genetic alterations involving the PAX3 or PAX7 genes, which are fused with the FOXO1 gene. These genetic changes lead to the formation of abnormal proteins that promote uncontrolled cell growth and division, resulting in the development of tumors.
ARMS typically affects children and adolescents, although it can occur in adults as well. The most common sites for ARMS include the extremities, trunk, head, and neck. The alveolar subtype is named for its histological resemblance to lung tissue, with tumors forming small, thin-walled cavities or spaces that look like the air sacs (alveoli) in the lungs.
ARMS tends to be more aggressive than other types of rhabdomyosarcoma and has a higher risk of metastasis (spreading to other parts of the body). Treatment usually involves a combination of surgery, radiation therapy, and chemotherapy. The prognosis for ARMS depends on several factors, including the patient's age, the size and location of the tumor, and the extent of spread at the time of diagnosis.
Sarcoma is a type of cancer that develops from certain types of connective tissue (such as muscle, fat, fibrous tissue, blood vessels, or nerves) found throughout the body. It can occur in any part of the body, but it most commonly occurs in the arms, legs, chest, and abdomen.
Sarcomas are classified into two main groups: bone sarcomas and soft tissue sarcomas. Bone sarcomas develop in the bones, while soft tissue sarcomas develop in the soft tissues of the body, such as muscles, tendons, ligaments, fat, blood vessels, and nerves.
Sarcomas can be further classified into many subtypes based on their specific characteristics, such as the type of tissue they originate from, their genetic makeup, and their appearance under a microscope. The different subtypes of sarcoma have varying symptoms, prognoses, and treatment options.
Overall, sarcomas are relatively rare cancers, accounting for less than 1% of all cancer diagnoses in the United States each year. However, they can be aggressive and may require intensive treatment, such as surgery, radiation therapy, and chemotherapy.
Soft tissue neoplasms refer to abnormal growths or tumors that develop in the soft tissues of the body. Soft tissues include muscles, tendons, ligaments, fascia, nerves, blood vessels, fat, and synovial membranes (the thin layer of cells that line joints and tendons). Neoplasms can be benign (non-cancerous) or malignant (cancerous), and their behavior and potential for spread depend on the specific type of neoplasm.
Benign soft tissue neoplasms are typically slow-growing, well-circumscribed, and rarely spread to other parts of the body. They can often be removed surgically with a low risk of recurrence. Examples of benign soft tissue neoplasms include lipomas (fat tumors), schwannomas (nerve sheath tumors), and hemangiomas (blood vessel tumors).
Malignant soft tissue neoplasms, on the other hand, can grow rapidly, invade surrounding tissues, and may metastasize (spread) to distant parts of the body. They are often more difficult to treat than benign neoplasms and require a multidisciplinary approach, including surgery, radiation therapy, and chemotherapy. Examples of malignant soft tissue neoplasms include sarcomas, such as rhabdomyosarcoma (arising from skeletal muscle), leiomyosarcoma (arising from smooth muscle), and angiosarcoma (arising from blood vessels).
It is important to note that soft tissue neoplasms can occur in any part of the body, and their diagnosis and treatment require a thorough evaluation by a healthcare professional with expertise in this area.
I am not aware of a medical definition for "Amdinocillin." It is possible that there might be a misunderstanding or a spelling mistake in the term. There is no antibiotic or pharmaceutical drug known as Amdinocillin in medical literature, according to my knowledge up to 2021. If you have any more information or context regarding this term, I would be happy to help further.
Costello syndrome - Wikipedia
Costello Syndrome | Rady Children's Hospital
Costello syndrome
Cutis laxa: a feature of Costello syndrome. | Journal of Medical Genetics
What does it mean when I hear that Costello syndrome children have developmental delay? - CostelloKids - A UK Registered charity
COSTELLO SYNDROME
Costello Syndrome - Health Hearty
Costello Syndrome « AFS Costello & CFC
Forgotten Diseases Research Foundation | Costello syndrome
Costello Syndrome- Definition, Risk Factors and Treatment
Decreased bone mineral density in Costello syndrome
Codon News, Research - Page 13
Is Rhabdomyosarcoma Soft Tissue Sarcoma? 7 Symptoms, 4 Stages
Developmental Disabilities: MedlinePlus
Pediatric Rhabdomyosarcoma: Practice Essentials, Background, Pathophysiology
Pediatric Rhabdomyosarcoma - Conditions and Treatments | Children's National Hospital
Kidshealth - Diseases & Conditions | Akron Children's Hospital
RAS Chat: An Interview with Kevan Shokat and Ziyang Zhang - NCI
Cardiofaciocutaneous syndrome: MedlinePlus Genetics
Autism traits in the RASopathies | Journal of Medical Genetics
Expertise center ENCORE - department - Erasmus MC Sophia
List of projects - Fundación Ramón Areces
The secrets of RASopathies - Big Think
Susac's syndrome - Wikipedia
2022 Craniofacial Morphogenesis and Tissue Regeneration Conference GRC
What is Sarcoma? - Sarcoma Foundation of America
RASopathies | Dawn Siegel Lab | Stanford Medicine
Kacper Kubicki - Tree of Hope
Orphanet: Beckwith Wiedemann syndrome
UKE - Scientist - Hannah VoßHRAS16
- Costello syndrome is caused by any of at least five different mutations in the HRAS gene on chromosome 11. (wikipedia.org)
- It remains unclear how mutations in HRAS cause other features of Costello syndrome, but many of the signs and symptoms may result from cell overgrowth and abnormal cell division. (wikipedia.org)
- Whereas children with Costello syndrome typically have a mutation in HRAS in every cell of their bodies, an otherwise healthy person with a tumor caused in part by HRAS mutation will only have mutant HRAS within the tumor. (wikipedia.org)
- Costello syndrome happens because of a change (mutation) in a gene called the HRAS gene. (rchsd.org)
- The only gene in which pathogenic variants related to Costello syndrome are found in the HRAS gene. (medicover-genetics.com)
- A syndrome that is rarely observed the world over, the Costello syndrome is caused by mutations of the HRAS gene. (healthhearty.com)
- The Costello syndrome is caused by the mutation of the HRAS gene. (healthhearty.com)
- Costello syndrome generally results from spontaneous mutations in a gene called HRAS . (forgottendiseases.org)
- Costello syndrome is caused by changes (mutations) in the HRAS gene. (diseasesdic.com)
- Some somatic mutations in the HRAS gene predispose individuals with Costello syndrome to an increased risk of neoplasms, with a 15% lifetime risk of developing malignant tumors. (diseasesdic.com)
- Mutations in the HRAS gene cause Costello syndrome. (diseasesdic.com)
- Some people with signs and symptoms of Costello syndrome do not have an identified mutation in the HRAS gene. (diseasesdic.com)
- Gene mutations in the HRAS sequence are present in most patients affected with Costello syndrome, according to a new study in the American Journal of Medical Genetics. (news-medical.net)
- HRAS protooncogene mutations cause this syndrome[13,14]. (familialcancerdatabase.nl)
- HRAS and the Costello syndrome. (familialcancerdatabase.nl)
- Costello syndrome is a rare rasopathy caused by germline mutations in the oncogene HRAS resulting in increased signal transduction through the Ras/mitogen-activated protein kinase pathway. (omeka.net)
Cause Costello syndrome2
- Mutations that cause Costello syndrome lead to the production of an H-Ras protein that is permanently active. (wikipedia.org)
- It only takes one changed gene to cause Costello syndrome. (rchsd.org)
Neurofibromatosis8
- citation needed] Another medication that affects H-Ras is Lovastatin, which is planned as a treatment for neurofibromatosis type I. When this was reported in mainstream news, the Costello Syndrome Professional Advisory Board was asked about its use in Costello Syndrome. (wikipedia.org)
- Other RASopathies include Noonan syndrome , Noonan syndrome with multiple lentigines (formally LEOPARD syndrome), neurofibromatosis type 1, cardio-facio-cutaneous (CFC) syndrome, and Legius syndrome. (forgottendiseases.org)
- While decreased bone mineralization has been documented in other RASopathies, such as neurofibromatosis type 1 and Noonan syndrome, systematic studies investigating bone mineral density (BMD) are lacking in CS. (unicatt.it)
- Background Mutations in Ras/mitogen-activated protein kinase (Ras/MAPK) pathway genes lead to a class of disorders known as RASopathies, including neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Costello syndrome (CS), and cardio-facio-cutaneous syndrome (CFC). (bmj.com)
- To date, dysregulation in the RAS pathway have been linked to debilitating disorders like autism, cancer, Noonan syndrome, Costello syndrome and Neurofibromatosis. (bigthink.com)
- Multiple café au lait macules and papillomata were not identified in our study's CFC cohort, which helps to distinguish CFC from other RASopathies, such as neurofibromatosis type 1 and Costello syndrome. (stanford.edu)
- is the Costello locus linked to neurofibromatosis type 2 on 22q? (familialcancerdatabase.nl)
- 1] In children, pheochromocytoma is more frequently associated with other familial syndromes, such as neurofibromatosis, von Hippel-Lindau disease, tuberous sclerosis, Sturge-Weber syndrome, and as a component of multiple endocrine neoplasia (MEN) syndromes (MEN 2A, MEN 2B). (medscape.com)
Mutations8
- citation needed] Beginning in early childhood, people with specific mutations on the Costello syndrome gene variant have an increased risk of developing certain cancerous and noncancerous tumors. (wikipedia.org)
- Because the mutations occur spontaneously, parents are unlikely (though not completely impossible) to have a second child with this syndrome. (forgottendiseases.org)
- These individuals may actually have CFC syndrome or Noonan syndrome, which are caused by mutations in related genes. (diseasesdic.com)
- Cardiofaciocutaneous syndrome can be caused by variants (also known as mutations) in several genes. (medlineplus.gov)
- [ 4 , 5 ] Hypomorphic mutations have been found in the signal transducer and activator of transcription 3 ( STAT3 ) gene in type 1 HIE syndrome and a null mutation in the tyrosine kinase 2 ( Tyk2 ) gene. (medscape.com)
- Another study credited deficiency of Th17 cells in HIE syndrome to mutations in STAT3 in a majority of evaluated patients. (medscape.com)
- In 1992, Nussbaum and colleagues reported that mutations of OCRL1 caused the rare X-linked disorder oculocerebrorenal syndrome of Lowe (OCRL), or Lowe syndrome, which includes the diagnostic triad of congenital cataracts, neonatal or infantile hypotonia with subsequent mental impairment, and renal tubular dysfunction. (medscape.com)
- A number of genetic mutations can result in Noonan syndrome. (handwiki.org)
RASopathies6
- Costello syndrome, which belongs to the group of RASopathies, is a very rare disease with an estimated incidence of 1:300,000 (United Kingdom) or 1:1,230,000 (Japan). (medicover-genetics.com)
- Costello syndrome is a member of a group of conditions called RASopathies . (forgottendiseases.org)
- RASopathies" are a family of nine genetically related development syndromes and disorders. (bigthink.com)
- Some clinicians have suggested that RASopathies may be even more common than Down syndrome. (bigthink.com)
- To learn more about RASopathies and Noonan Syndrome-or to find ways to get involved-visit the RASopathies Foundation or the Noonan Syndrome Community . (bigthink.com)
- A Brief video on Bruce Gelb and his interest in RASopathies research, particularly Noonan syndrome. (rasopathiesnet.org)
Child has Costello syndrome1
- If you suspect that your child has Costello syndrome, check with your family physician, who will compare your child's signs and symptoms with those known to occur in Costello syndrome. (forgottendiseases.org)
Baby with Costello syndrome1
- Parents of a baby with Costello syndrome (SIN-drome) usually notice that the baby is having trouble feeding. (rchsd.org)
Cardiofaciocutaneous syndrome12
- There is a chance that the symptoms of patients suffering from this syndrome might be confused with that of the Noonan and/or Cardiofaciocutaneous syndrome. (healthhearty.com)
- Heart defects occur in most people with cardiofaciocutaneous syndrome. (medlineplus.gov)
- Cardiofaciocutaneous syndrome is also characterized by distinctive facial features. (medlineplus.gov)
- Skin abnormalities occur in almost everyone with cardiofaciocutaneous syndrome. (medlineplus.gov)
- Infants with cardiofaciocutaneous syndrome typically have weak muscle tone (hypotonia), feeding difficulties, and a failure to grow and gain weight at the normal rate (failure to thrive). (medlineplus.gov)
- The signs and symptoms of cardiofaciocutaneous syndrome overlap significantly with those of two other genetic conditions, Costello syndrome and Noonan syndrome . (medlineplus.gov)
- Unlike Costello syndrome, which significantly increases a person's cancer risk, cancer does not appear to be a major feature of cardiofaciocutaneous syndrome. (medlineplus.gov)
- Cardiofaciocutaneous syndrome is a very rare condition whose incidence is unknown. (medlineplus.gov)
- Variants in any of these genes can result in the characteristic features of cardiofaciocutaneous syndrome. (medlineplus.gov)
- The altered signaling interferes with the development of many organs and tissues, leading to the signs and symptoms of cardiofaciocutaneous syndrome. (medlineplus.gov)
- Some people with the signs and symptoms of cardiofaciocutaneous syndrome do not have an identified variant in the BRAF , MAP2K1 , MAP2K2 , or KRAS gene. (medlineplus.gov)
- Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome. (stanford.edu)
Symptoms6
- What Are the Signs & Symptoms of Costello Syndrome? (rchsd.org)
- That means that two children with Costello syndrome may have different symptoms, and the symptoms can affect one child more than the other. (rchsd.org)
- The treatment options available for this syndrome, today, focus on the various disorders and symptoms related to the syndrome. (healthhearty.com)
- Susac's syndrome is a very rare disease, of unknown cause, and many persons who experience it do not display the bizarre symptoms named here. (wikipedia.org)
- If close attention is not paid to the retina of a patient with vision loss and brain lesions, their symptoms may be mistaken for MS instead of Susac's syndrome. (wikipedia.org)
- Skin signs and symptoms in Noonan syndrome include lymphedema (lymph swelling of the extremities), keloid formation, excessive scar formation, hyperkeratosis (overdevelopment of outer skin layer), pigmented nevi (darkly pigmented skin spots), and connective tissue disease. (handwiki.org)
Noonan Syndrome14
- In these cases, affected individuals may actually have Costello syndrome or Noonan syndrome, which are also caused by variants in genes involved in RAS/MAPK signaling. (medlineplus.gov)
- The birth prevalence of Noonan syndrome (NS) is estimated between 1:1000 to 1:2500. (orpha.net)
- Author and journalist Olivia Gordon, has written a moving book about her son's diagnosis with Noonan Syndrome, and it's now published in the United States. (rasopathiesnet.org)
- A 12-year-old girl with Noonan syndrome, displaying typical webbed neck and double structural curve with rib deformity. (handwiki.org)
- Noonan syndrome ( NS ) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. (handwiki.org)
- [3] [1] Noonan syndrome is a type of RASopathy , the underlying mechanism for which involves attenuation of the RAS/MAPK cell signaling pathway. (handwiki.org)
- Abnormal features of Noonan syndrome at the age of 3 months: Note the eyebrow slant and left-side eyelid dropping. (handwiki.org)
- Abnormal features of Noonan syndrome at the age of 3 months: Note the low-set, posteriorly rotated, and abnormally formed ear. (handwiki.org)
- The most common signs leading to the diagnosis of Noonan syndrome are unique facial characteristics and musculoskeletal features. (handwiki.org)
- The facial characteristics are most prominent in infancy, becoming less apparent with age in many people with Noonan syndrome. (handwiki.org)
- Some of the characteristic features of Noonan syndrome include a large head with excess skin on the back of the neck, low hairline at the nape of the neck, high hairline at the front of the head, triangular face shape, broad forehead, and a short, webbed neck. (handwiki.org)
- In the eyes, hypertelorism (widely set eyes) is a defining characteristic, present in 95% of people with Noonan syndrome. (handwiki.org)
- Development of the mouth may also be affected in Noonan syndrome. (handwiki.org)
- Abnormalities in the limbs and extremities may occur in Noonan syndrome. (handwiki.org)
Gene2
- citation needed] Costello syndrome is inherited in an autosomal dominant manner, which means one copy of the altered gene is sufficient to cause the disorder. (wikipedia.org)
- Lowe syndrome is caused by an inherited mutation in the OCRL gene, mapped to chromosome Xq 26.1, which encodes the OCRL1 protein. (medscape.com)
Certain cancerous and noncancerous tumors1
- Beginning in early childhood, people with Costello Syndrome additionally have an increased risk to develop certain cancerous and noncancerous tumors. (diseasesdic.com)
Tumor6
- The most frequent cancerous tumor associated with Costello syndrome is a soft tissue tumor called a rhabdomyosarcoma. (wikipedia.org)
- Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol. (atlasgeneticsoncology.org)
- A tumor of nerve cells, that is found in children as a result of the syndrome, is known as neuroblastoma. (healthhearty.com)
- Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations. (orpha.net)
- Gripp reviewed the occurrence of cancer in Costello syndrome: the most common tumor in CS is rhabdomyosarcoma (RMS), followed by neuroblastoma and bladder carcinoma[12]. (familialcancerdatabase.nl)
- Tumor predisposition in Costello syndrome. (familialcancerdatabase.nl)
Jack Costello2
- Costello syndrome was discovered by Jack Costello, a New Zealand paediatrician, in 1977. (wikipedia.org)
- In 1971, Dr. Jack Costello, a pediatrician in New Zealand, identified two non-related individuals as having a cluster of characteristics that might be a new syndrome. (diseasesdic.com)
Autosomal4
- Costello syndrome is an autosomal dominant disorder. (forgottendiseases.org)
- 3 Additional rare autosomal dominant or recessive disorders, such as Smith-Lemli-Opitz syndrome, Timothy syndrome and CHARGE syndrome have been described as associated with autism in clinical reports. (bmj.com)
- First described in 1966, the hyperimmunoglobulin E (hyper-IgE or HIE) syndrome is a rare immunodeficiency disorder that has an autosomal dominant inheritance pattern. (medscape.com)
- Father and daughter with autosomal dominant Job syndrome (hyperimmunoglobulin E syndrome). (medscape.com)
Rhabdomyosarcoma4
- Costello syndrome: two cases with embryonal rhabdomyosarcoma. (atlasgeneticsoncology.org)
- Costello syndrome: report of six patients including one with an embryonal rhabdomyosarcoma. (atlasgeneticsoncology.org)
- Rhabdomyosarcoma, the connective tissue cancer, is seen among patients afflicted by this syndrome. (healthhearty.com)
- Feingold M. Costello syndrome and rhabdomyosarcoma. (familialcancerdatabase.nl)
Faciocutaneoskeletal syndrome1
- Costello syndrome, also called faciocutaneoskeletal syndrome or FCS syndrome, is a rare genetic disorder that affects many parts of the body. (wikipedia.org)
Disorder5
- Basically a genetic disorder, the Costello syndrome leads to the delayed development of body systems in children. (healthhearty.com)
- Costello syndrome (CS) is a multisystemic disorder characterized by postnatal reduced growth, facial dysmorphism, cardiac defects, cognitive impairment, skin and musculo-skeletal anomalies, and predisposition to certain cancers. (unicatt.it)
- William F. Hoyt was the first to call the syndrome Susac syndrome and later Robert Daroff asked Dr. Susac to write an editorial in Neurology about the disorder and to use the eponym of Susac syndrome in the title, forever linking this disease with him. (wikipedia.org)
- We're also working to identify the genetic factors and modifiers of Costello syndrome (CS), a disorder that can have profound effects on many parts of a child's body, including a predisposition for malignant tumors. (nemours.org)
- 7 Many individuals with either a chronic pain syndrome or with chronic fatigue syndrome could be considered as having a somatoform disorder according to the DSM IV criteria. (bmj.com)
Hypoplastic Left Hea4
- Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrity. (ucsd.edu)
- Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome. (ucsd.edu)
- Intrinsic Endocardial Defects Contribute to Hypoplastic Left Heart Syndrome. (ucsd.edu)
- Working with Christian Pizarro, MD , director of the Nemours Cardiac Center, we're studying the molecular genetics of hypoplastic left heart syndrome, a congenital (present from birth) heart defect in which the left ventricle of the heart is severely underdeveloped. (nemours.org)
19711
- Described for the first time in 1971, Costello syndrome, or syndrome Facio-cutaneous-skeletal, is a rare disease that reveals itself in the first months of life and is characterized by postnatal growth retardation, thick lines, a retardation and skin. (asso.fr)
Abnormalities4
- HIE syndrome has variable expressivity and is associated with multiple abnormalities. (medscape.com)
- Type 1 HIE syndrome displays abnormalities in multiple systems, including the skeletal, dental, and immune systems, whereas type 2 HIE syndrome shows abnormalities confined to the immune system. (medscape.com)
- Congenital Zika virus syndrome consists of a large spectrum of neurologic abnormalities seen in infants infected with Zika virus in utero. (cdc.gov)
- A syndrome of multiple abnormalities characterized by the absence or hypoplasia of the PATELLA and congenital nail dystrophy. (bvsalud.org)
RASopathy2
- Costello syndrome is a RASopathy. (rchsd.org)
- A new online study by Paige Naylor, doctoral candidate at Palo Alto University in California, is recruiting families who has a child with any RASopathy syndrome between the ages of 8-18, and who can communicate in English. (rasopathiesnet.org)
Pathway2
- A173:1109 / Abe IL: International Meeting on Genetic Syndromes of the Ras/MAPK Pathway 2011 / Gripp et al. (medicover-genetics.com)
- We found that CFC syndrome has a complex dermatologic phenotype with many cutaneous features, some of which allow it to be differentiated from the other Ras/MAPK pathway syndromes. (stanford.edu)
Characterized by postnatal growth1
- This syndrome is characterized by postnatal growth deficiency, cardiomyopathy, (mild to moderate) mental deficiency, redundant skin on neck, palms and soles, skin hyperpigmentation, acanthosis nigricans, papillomata, resembling verruca vulgaris and typically located on the nose, periorally and on trunk and limbs. (familialcancerdatabase.nl)
Tumors4
- The test for the mutation in cancer tumors can also be used to test children for Costello syndrome. (wikipedia.org)
- Children who have Costello syndrome also have a higher risk for some types of tumors, which can be benign (not cancer) or malignant ( cancer ). (rchsd.org)
- The children who suffer from Costello syndrome, are susceptible to the development of different types of tumors, that may be both cancerous as well as noncancerous. (healthhearty.com)
- Roughly two-thirds of people with Costello syndrome also have heart problems (see list below), and close to half have benign/non-cancerous tumors, including papillomas. (forgottendiseases.org)
Child's1
- If your child's doctor isn't familiar with Costello syndrome, the information from Costello Kids may help. (forgottendiseases.org)
Protein2
- Food protein induced enterocolitis syndrome, also called FPIES, is a type of delayed food allergy. (akronchildrens.org)
- [ 2 ] and (2) Mehta ZB, Pietka G, Lowe M. The cellular and physiological functions of the Lowe syndrome protein OCRL1. (medscape.com)
Congenital2
- Costello Syndrome is a rare syndrome which is characterized by multiple congenital anomalies including dysmorphic craniofacial features, cardiac defects, ectodermal and musculoskeletal anomalies, failure to thrive and developmental delay, and cancer. (fundmypage.com)
- The malformations and dysfunctions caused by Zika virus infection during pregnancy are known as congenital Zika syndrome (CZS), but the anatomic, functional, and neurocognitive impairments associated with in utero Zika virus infection have not been precisely defined ( 21 ). (cdc.gov)
Cardio-facio-cutaneous1
- We characterized the spectrum of dermatologic findings in mutation-positive individuals with cardio-facio-cutaneous (CFC) syndrome. (stanford.edu)
Affects3
- Costello syndrome affects many body systems, and patients typically have intellectual disability and loose skin. (forgottendiseases.org)
- Costello Syndrome is a rare condition that affects many different parts of the body. (diseasesdic.com)
- The syndrome usually affects women around the age of 18 years, with female to male ratio of cases of 2:1. (wikipedia.org)
Disease1
- The occurrence of the disease is rare and very few develop this syndrome. (healthhearty.com)
Neurodevelopmental3
- The research of the Elgersma lab mainly focusses on Angelman Syndrome and Tuberous Sclerosis Complex, and the use of antisense oligonucleotide t(ASO) herapy to treat neurodevelopmental disorders. (erasmusmc.nl)
- Many haven't-despite the fact that they are the largest group of related neurodevelopmental syndromes in the world. (bigthink.com)
- Moderate to heavy alcohol use by women during pregnancy has been associated with many severe adverse effects in their children, including fetal alcohol syndrome (FAS) -- with facial dysmorphology, growth retardation, and central nervous system deficits -- and other neurodevelopmental effects (1). (cdc.gov)
Children16
- Infants with Costello syndrome may be large at birth, but grow more slowly than other children and have difficulty feeding. (wikipedia.org)
- After his presentation, members of the Costello Syndrome Family Network discussed the possibility of FTIs helping children with Costello syndrome. (wikipedia.org)
- Mark Kieran, who presented at the 1st International Costello Syndrome Research Symposium in 2007, agreed that FTIs might help children with Costello syndrome. (wikipedia.org)
- Most children with Costello syndrome have a new mutation. (rchsd.org)
- A team of medical specialists cares for children with Costello syndrome. (rchsd.org)
- Children with Costello syndrome tend to be friendly and outgoing, but most learn more slowly than other children of the same age. (rchsd.org)
- Screening for cancer in children with Costello syndrome. (atlasgeneticsoncology.org)
- What does it mean when I hear that Costello syndrome children have developmental delay? (costellokids.com)
- A cancer of the bladder, called transitional cell carcinoma, also develops in children due to this syndrome. (healthhearty.com)
- The number of children suffering from the syndrome is very less. (healthhearty.com)
- Distinguishing them from Costello syndrome may not be easy in young children, but the differences between the three syndromes become more obvious as children age. (forgottendiseases.org)
- Multisystem inflammatory syndrome in children (MIS-C) causes inflammation throughout the body. (akronchildrens.org)
- They are looking for successful treatments to help children who have disorders like Noonan and Costello syndromes. (bigthink.com)
- Our aim is to gain a to better understanding of Costello Syndrome identify the best practices in treatment for our children. (fundmypage.com)
- A number of children develop a chronic pain syndrome and become quite disabled. (bmj.com)
- It is also noteworthy that about 10% of children with localised idiopathic limb pain (often called algodystrophy or reflex sympathetic dystrophy, and more recently complex regional pain syndrome type 1) later developed more widespread musculoskeletal pain, and that a similar percentage of children with diffuse pain had often had previous episodes of localised limb pain. (bmj.com)
Angelman Syndrome1
- Sonzogni M, Zhai P, Mientjes EJ, van Woerden GM , Elgersma Y . Assessing the requirements of prenatal UBE3A expression for rescue of behavioral phenotypes in a mouse model for Angelman syndrome. (neurotree.org)
Phenotype1
- When more patients were described, the phenotype was expanded to include the renal tubular defects that comprise Fanconi syndrome , and an X-linked inheritance pattern was noted. (medscape.com)
Tuberous1
- The most well established of these, including fragile X syndrome, tuberous sclerosis, Rett syndrome, and PTEN mutation account for up to 5% of ASDs. (bmj.com)
Neuroblastoma1
- Other forms of cancer associated with Costello syndrome include neuroblastoma, which is a cancer that develops in nerve tissue formed very early in development (before birth). (forgottendiseases.org)
Complications2
- Apart from mental retardation, the prognosis of patients with Costello syndrome depends mainly on the occurrence of cardiac and\/or tumoral complications. (atlasgeneticsoncology.org)
- Costello syndrome is a complex, multisystem condition, and it can lead to various complications. (diseasesdic.com)
Malignant1
- Patients with Costello syndrome are prone to develop both benign and malignant tumours. (atlasgeneticsoncology.org)
Severe1
- Cytokine responses in both types of HIE syndrome revealed severe defects leading to impaired T-helper type 17 function. (medscape.com)
Proteins2
- Membrane trafficking defects caused by mutation in OCRL may explain renal tubular defects observed in Lowe syndrome, including the inability of proximal tubular cells (PTC) to reabsorb low-molecular weight (LMW) proteins and other solutes such as phosphorus and bicarbonate from the glomerular filtrate. (medscape.com)
- The low number of megalin at the PTC apical border explains the reduced endocytosis of low-molecular weight proteins that occur in Lowe syndrome. (medscape.com)
Typically1
- [ 3 ] Proteomic analysis of urine from patients with Lowe syndrome typically show low levels of megalin and cubilin denoting a decrease in the number of these multiligand receptors in the PTC. (medscape.com)
Differential1
- Differential diagnoses include Simpson-Golabi-Behmel, Costello, Perlman, and Sotos syndromes, and mucopolysaccharidosis type VI (see these terms). (orpha.net)
Clinical4
- He discussed with Costello advocates what he had learned in establishing and running the Progeria clinical trial with an FTI, to help them consider next steps. (wikipedia.org)
- A diagnosis of Costello syndrome is suspected based on clinical findings, including those listed on this page. (forgottendiseases.org)
- Typical craniofacial dysmorphisms are present and there is clinical and molecular overlap with CFC syndrome[1-5]. (familialcancerdatabase.nl)
- It has been suggested that chronic fatigue syndrome in adolescents and juvenile fibromyalgia syndrome (one form of chronic pain syndrome) may be overlapping clinical entities, that may be indistinguishable by current diagnostic criteria. (bmj.com)
Disorders1
- The link between Zika virus and neurologic disorders such as Guillain-Barré syndrome in adults and microcephaly in newborns is now established ( 9 - 15 ). (cdc.gov)
Manifestations1
- Increasingly the term biopsychosocial is being used to describe a model that more fully encompasses the biological, psychological, and social factors that may be important in the manifestations of chronic symptom complexes such as chronic pain and chronic fatigue syndrome. (bmj.com)
Facial1
- Facial, dental, and skeletal features are also associated with this syndrome. (medscape.com)
Rett1
- These cause conditions such as Down syndrome and Rett syndrome . (medlineplus.gov)
Cancer5
- Costello syndrome: a cancer predisposing syndrome? (atlasgeneticsoncology.org)
- As an example, people with Costello syndrome have an increased risk for a type of cancer called rhabodmyosarcoma, which tends to form in muscles that attach to bones (1, 2). (forgottendiseases.org)
- According to one review, the lifetime cancer risk for people with Costello syndrome is 15% (2). (forgottendiseases.org)
- This syndrome is found in family members who are predisposed to developing sarcomas, such as RMS and other cancers ( breast cancer , leukemia ). (medicinenet.com)
- Transitional cell cancer of the bladder was reported in a 11-year-old boy [9] and a 14-year-old girl[10] with Costello syndrome. (familialcancerdatabase.nl)
