Failure to Thrive
Proto-Oncogene Proteins p21(ras)
Chondroitin ABC Lyase
Heart Defects, Congenital
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)
1. Costello Syndrome
2. Hyperflexible Ehlers-Danlos Syndrome (hEDS) Type 3
3. Autosomal Dominant Ehlers-Danlos Syndrome (AD-EDS) Type 3
4. Connective Tissue Disorder
5. Hypermobility Spectrum Disorder (HSD)
6. Hypermobile Ehlers-Danlos Syndrome (hEDS)
Costello syndrome is a rare genetic disorder that impacts the body's connective tissues, particularly skin, joints, and blood vessels. It is also known as hyperflexible Ehlers-Danlos syndrome or autosomal dominant Ehlers-Danlos syndrome type 3. People with this condition have extremely flexible joints, which can lead to joint dislocations and other complications. Other symptoms may include fragile skin that is prone to tearing, bruising, and poor wound healing, as well as cardiac, gastrointestinal, and neurological problems. The condition is caused by a mutation in the COL5A1 or COL5A2 genes and is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the condition. There is no cure for Costello syndrome, but treatment is aimed at managing symptoms and preventing complications.
Some common types of skin abnormalities include:
1. Birthmarks: These are benign growths that can be present at birth or appear later in life. They can be flat or raised, and can be made up of different types of cells, such as blood vessels or pigment-producing cells.
2. Moles: These are small, dark spots on the skin that are usually benign but can occasionally become cancerous.
3. Warts: These are small, rough bumps on the skin that are caused by the human papillomavirus (HPV).
4. Psoriasis: This is a chronic condition that causes red, scaly patches on the skin.
5. Eczema: This is a chronic condition that causes dry, itchy skin and can lead to inflammation and skin thickening.
6. Acne: This is a common condition that causes blackheads, whiteheads, and other types of blemishes on the skin.
7. Scars: These are areas of damaged skin that can be caused by injury, surgery, or infection.
8. Vitiligo: This is a condition in which the skin loses its pigment, leading to white patches.
9. Impetigo: This is a bacterial infection that causes red sores on the skin.
10. Molluscum contagiosum: This is a viral infection that causes small, painless bumps on the skin.
Skin abnormalities can be diagnosed through a combination of physical examination, medical history, and diagnostic tests such as biopsies or imaging studies. Treatment options vary depending on the specific type of abnormality and its underlying cause, but may include topical creams or ointments, medications, laser therapy, or surgery. It is important to seek medical attention if you notice any changes in your skin, as early diagnosis and treatment can help prevent complications and improve outcomes.
Examples of syndromes include:
1. Down syndrome: A genetic disorder caused by an extra copy of chromosome 21 that affects intellectual and physical development.
2. Turner syndrome: A genetic disorder caused by a missing or partially deleted X chromosome that affects physical growth and development in females.
3. Marfan syndrome: A genetic disorder affecting the body's connective tissue, causing tall stature, long limbs, and cardiovascular problems.
4. Alzheimer's disease: A neurodegenerative disorder characterized by memory loss, confusion, and changes in personality and behavior.
5. Parkinson's disease: A neurological disorder characterized by tremors, rigidity, and difficulty with movement.
6. Klinefelter syndrome: A genetic disorder caused by an extra X chromosome in males, leading to infertility and other physical characteristics.
7. Williams syndrome: A rare genetic disorder caused by a deletion of genetic material on chromosome 7, characterized by cardiovascular problems, developmental delays, and a distinctive facial appearance.
8. Fragile X syndrome: The most common form of inherited intellectual disability, caused by an expansion of a specific gene on the X chromosome.
9. Prader-Willi syndrome: A genetic disorder caused by a defect in the hypothalamus, leading to problems with appetite regulation and obesity.
10. Sjogren's syndrome: An autoimmune disorder that affects the glands that produce tears and saliva, causing dry eyes and mouth.
Syndromes can be diagnosed through a combination of physical examination, medical history, laboratory tests, and imaging studies. Treatment for a syndrome depends on the underlying cause and the specific symptoms and signs presented by the patient.
Here are some examples of how the term "facies" may be used in a medical context:
1. Facial asymmetry: A patient with facial asymmetry may have one side of their face that is noticeably different from the other, either due to a birth defect or as a result of trauma or surgery.
2. Facial dysmorphia: This is a condition in which a person has a distorted perception of their own facial appearance, leading them to seek repeated cosmetic procedures or to feel self-conscious about their face.
3. Facies of a particular syndrome: Certain medical conditions, such as Down syndrome or Turner syndrome, can have distinctive facial features that are used to help diagnose the condition.
4. Facial trauma: A patient who has suffered an injury to their face may have a facies that is disrupted or misshapen as a result of the trauma.
5. Facial aging: As people age, their facial features can change in predictable ways, such as sagging of the skin, deepening of wrinkles, and loss of fat volume. A doctor might use the term "facies" to describe these changes and plan appropriate treatments, such as a facelift or dermal fillers.
In general, the term "facies" is used by healthcare professionals to describe any aspect of a patient's facial appearance that may be relevant to their diagnosis or treatment. It is a useful way to communicate information about a patient's face in a precise and objective manner.
The symptoms of Noonan syndrome can vary widely among individuals, but typically include:
* Short stature and short arms and legs
* Concave chest (pectus excavatum)
* Mild to moderate intellectual disability
* Delayed development of speech and language skills
* Distinctive facial features such as a long, narrow face, low-set ears, and a prominent forehead
* Heart defects, particularly pulmonary valve stenosis or atrial septal defect
* Eye problems, including crossed eyes (strabismus) or double vision (diplopia)
* Hearing loss
* Skeletal abnormalities such as curved spine (scoliosis) or missing or deformed ribs
Noonan syndrome is usually diagnosed based on a combination of clinical features and genetic testing. Treatment for the disorder typically focuses on managing any associated medical problems, such as heart defects or hearing loss, and providing support for intellectual and developmental delays. In some cases, medications may be prescribed to help manage symptoms such as high blood pressure or hyperthyroidism.
While there is no cure for Noonan syndrome, early diagnosis and intervention can help improve outcomes for individuals with the disorder. With appropriate support and resources, many people with Noonan syndrome are able to lead fulfilling lives and achieve their goals.
Some examples of multiple abnormalities include:
1. Multiple chronic conditions: An individual may have multiple chronic conditions such as diabetes, hypertension, arthritis, and heart disease, which can affect their quality of life and increase their risk of complications.
2. Congenital anomalies: Some individuals may be born with multiple physical abnormalities or birth defects, such as heart defects, limb abnormalities, or facial deformities.
3. Mental health disorders: Individuals may experience multiple mental health disorders, such as depression, anxiety, and bipolar disorder, which can impact their cognitive functioning and daily life.
4. Neurological conditions: Some individuals may have multiple neurological conditions, such as epilepsy, Parkinson's disease, and stroke, which can affect their cognitive and physical functioning.
5. Genetic disorders: Individuals with genetic disorders, such as Down syndrome or Turner syndrome, may experience a range of physical and developmental abnormalities.
The term "multiple abnormalities" is often used in medical research and clinical practice to describe individuals who have complex health needs and require comprehensive care. It is important for healthcare providers to recognize and address the multiple needs of these individuals to improve their overall health outcomes.
FTT is typically diagnosed when a child's weight or height is below the 10th percentile for their age, and they are not gaining weight or growing at a normal rate despite adequate nutrition and appropriate medical care. This can be caused by a variety of factors, including:
* Poor nutrition or inadequate caloric intake
* Genetic disorders that affect growth
* Chronic illnesses such as asthma, gastrointestinal problems, or heart disease
* Environmental factors such as poverty, neglect, or poor living conditions
* Hormonal imbalances
FTT can have significant long-term consequences for a child's health and development. Children who fail to thrive may be at increased risk for:
* Delayed cognitive and social development
* Behavioral problems such as anxiety or depression
* Poor school performance
* Increased risk of chronic diseases such as obesity, diabetes, and heart disease later in life.
Treatment for FTT depends on the underlying cause and may include:
* Nutritional supplements or changes to the child's diet
* Medical treatment for any underlying chronic illnesses
* Addressing environmental factors such as poverty or neglect
* Hormone replacement therapy if hormonal imbalances are suspected
* Psychosocial interventions to address behavioral problems or other issues that may be contributing to the child's FTT.
It is important for parents and caregivers to monitor their child's growth and development and seek medical attention if they notice any signs of FTT, such as:
* Poor weight gain or growth rate
* Delayed physical milestones such as sitting, crawling, or walking
* Poor appetite or difficulty feeding
* Frequent illnesses or infections.
There are various causes of intellectual disability, including:
1. Genetic disorders, such as Down syndrome, Fragile X syndrome, and Turner syndrome.
2. Congenital conditions, such as microcephaly and hydrocephalus.
3. Brain injuries, such as traumatic brain injury or hypoxic-ischemic injury.
4. Infections, such as meningitis or encephalitis.
5. Nutritional deficiencies, such as iron deficiency or iodine deficiency.
Intellectual disability can result in a range of cognitive and functional impairments, including:
1. Delayed language development and difficulty with communication.
2. Difficulty with social interactions and adapting to new situations.
3. Limited problem-solving skills and difficulty with abstract thinking.
4. Slow learning and memory difficulties.
5. Difficulty with fine motor skills and coordination.
There is no cure for intellectual disability, but early identification and intervention can significantly improve outcomes. Treatment options may include:
1. Special education programs tailored to the individual's needs.
2. Behavioral therapies, such as applied behavior analysis (ABA) and positive behavior support (PBS).
3. Speech and language therapy.
4. Occupational therapy to improve daily living skills.
5. Medications to manage associated behaviors or symptoms.
It is essential to recognize that intellectual disability is a lifelong condition, but with appropriate support and resources, individuals with ID can lead fulfilling lives and reach their full potential.
Types of congenital heart defects include:
1. Ventricular septal defect (VSD): A hole in the wall between the two lower chambers of the heart, allowing abnormal blood flow.
2. Atrial septal defect (ASD): A hole in the wall between the two upper chambers of the heart, also allowing abnormal blood flow.
3. Tetralogy of Fallot: A combination of four heart defects, including VSD, pulmonary stenosis (narrowing of the pulmonary valve), and abnormal development of the infundibulum (a part of the heart that connects the ventricles to the pulmonary artery).
4. Transposition of the great vessels: A condition in which the aorta and/or pulmonary artery are placed in the wrong position, disrupting blood flow.
5. Hypoplastic left heart syndrome (HLHS): A severe defect in which the left side of the heart is underdeveloped, resulting in insufficient blood flow to the body.
6. Pulmonary atresia: A condition in which the pulmonary valve does not form properly, blocking blood flow to the lungs.
7. Truncus arteriosus: A rare defect in which a single artery instead of two (aorta and pulmonary artery) arises from the heart.
8. Double-outlet right ventricle: A condition in which both the aorta and the pulmonary artery arise from the right ventricle instead of the left ventricle.
Causes of congenital heart defects are not fully understood, but genetics, environmental factors, and viral infections during pregnancy may play a role. Diagnosis is typically made through fetal echocardiography or cardiac ultrasound during pregnancy or after birth. Treatment depends on the type and severity of the defect and may include medication, surgery, or heart transplantation. With advances in medical technology and treatment, many children with congenital heart disease can lead active, healthy lives into adulthood.
* Skin changes, such as freckles-like spots (lentigines) on the skin, hair, and eyes
* Electrocardiographic abnormalities, such as arrhythmias and prolonged QT interval
* Oculocutaneous albinism, which affects the pigmentation of the skin, hair, and eyes
* Pulmonary stenosis, a narrowing of the pulmonary valve that can lead to heart problems
* Abnormal genitalia in males
* Deafness or hearing loss
Leopard syndrome is typically diagnosed based on a combination of clinical findings and genetic testing. Treatment for the disorder is focused on managing the individual symptoms, such as cardiovascular problems, hearing loss, and vision issues. The prognosis for individuals with leopard syndrome varies depending on the severity of the symptoms and the presence of any additional health problems. With appropriate management, many individuals with leopard syndrome can lead active and productive lives.
The exact cause of HCM is not fully understood, but it is thought to be related to a combination of genetic and environmental factors. Some people with HCM have a family history of the condition, and it is also more common in certain populations such as athletes and individuals with a history of hypertension or diabetes.
Symptoms of HCM can vary from person to person and may include shortness of breath, fatigue, palpitations, and chest pain. In some cases, HCM may not cause any symptoms at all and may be detected only through a physical examination or diagnostic tests such as an echocardiogram or electrocardiogram (ECG).
Treatment for HCM typically focuses on managing symptoms and reducing the risk of complications. This may include medications to reduce blood pressure, control arrhythmias, or improve heart function, as well as lifestyle modifications such as regular exercise and a healthy diet. In some cases, surgery or other procedures may be necessary to treat HCM.
Prognosis for individuals with HCM varies depending on the severity of the condition and the presence of any complications. With appropriate treatment and management, many people with HCM can lead active and fulfilling lives, but it is important to receive regular monitoring and care from a healthcare provider to manage the condition effectively.
There are several possible causes of dilated cardiomyopathy, including:
1. Coronary artery disease: This is the most common cause of dilated cardiomyopathy, and it occurs when the coronary arteries become narrowed or blocked, leading to a decrease in blood flow to the heart muscle.
2. High blood pressure: Prolonged high blood pressure can cause the heart muscle to become weakened and enlarged.
3. Heart valve disease: Dysfunctional heart valves can lead to an increased workload on the heart, which can cause dilated cardiomyopathy.
4. Congenital heart defects: Some congenital heart defects can lead to an enlarged heart and dilated cardiomyopathy.
5. Alcohol abuse: Chronic alcohol abuse can damage the heart muscle and lead to dilated cardiomyopathy.
6. Viral infections: Some viral infections, such as myocarditis, can cause inflammation of the heart muscle and lead to dilated cardiomyopathy.
7. Genetic disorders: Certain genetic disorders, such as hypertrophic cardiomyopathy, can cause dilated cardiomyopathy.
8. Obesity: Obesity is a risk factor for developing dilated cardiomyopathy, particularly in younger people.
9. Diabetes: Diabetes can increase the risk of developing dilated cardiomyopathy, especially if left untreated or poorly controlled.
10. Age: Dilated cardiomyopathy is more common in older adults, with the majority of cases occurring in people over the age of 65.
It's important to note that many people with these risk factors will not develop dilated cardiomyopathy, and some people without any known risk factors can still develop the condition. If you suspect you or someone you know may have dilated cardiomyopathy, it's important to consult a healthcare professional for proper diagnosis and treatment.
Rhythmic movement disorder
Foreign accent syndrome
Infertility in polycystic ovary syndrome
Stenosis of pulmonary artery
Polycystic ovary syndrome
Neurofibromatosis type I
List of syndromes
Ryan Costello (baseball)
Congenital heart defect
Battle of Jutland
Extra Large Medium
Austin de Lone
List of OMIM disorder codes
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History of Australia (1945-present)
Heart-type fatty acid binding protein
Deaths in November 2019
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Costello syndrome: MedlinePlus Genetics
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Noonan Syndrome Medication: Growth Hormone
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- Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey. (medlineplus.gov)
- Costello syndrome (CS) and cardio-facio-cutaneous syndrome (CFCS) belong to the RASopathies, a group of neurodevelopmental disorders with skeletal anomalies. (biomedcentral.com)
- Costello syndrome (CS, OMIM #218040) and cardio-facio-cutaneous syndrome (CFCS, OMIM PS115150) are neurodevelopmental disorders caused by gain-of-function mutations in genes encoding components of the RAS/mitogen-activated protein kinase (MAPK) pathway, an intracellular signaling cascade playing a pivotal role in cell cycle regulation, differentiation, growth and senescence [ 1 ]. (biomedcentral.com)
- 27. Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome. (nih.gov)
- The signs and symptoms of Costello syndrome overlap significantly with those of two other genetic conditions, cardiofaciocutaneous syndrome (CFC syndrome) and Noonan syndrome . (medlineplus.gov)
- Mutations in the KRAS gene are an uncommon cause of cardiofaciocutaneous syndrome, accounting for less than 5 percent of cases. (nih.gov)
- The altered signaling interferes with the development of organs and tissues throughout the body, leading to the varied signs and symptoms of cardiofaciocutaneous syndrome. (nih.gov)
- These mutations lead to a K-Ras protein that is more strongly overactivated than the mutations that cause cardiofaciocutaneous syndrome (described above). (nih.gov)
- Germline mutations in the KRAS gene also cause a disorder whose major features overlap with those of cardiofaciocutaneous syndrome (described above) and two related disorders called Noonan syndrome and Costello syndrome . (nih.gov)
- NOONAN SYNDROME and cardiofaciocutaneous syndrome). (nih.gov)
- We conclude that germline CBL mutations have developmental, tumorigenic and functional consequences that resemble disorders that are caused by hyperactive Ras/Raf/MEK/ERK signaling and include neurofibromatosis type 1, Noonan syndrome, Costello syndrome, cardiofaciocutaneous syndrome and Legius syndrome. (nature.com)
- When Do Symptoms of Cardiofaciocutaneous syndrome Begin? (nih.gov)
Phenotype in Costello syndrome2
- These individuals may actually have CFC syndrome or Noonan syndrome, which are caused by mutations in related genes. (medlineplus.gov)
- These conditions are grouped under the term RASopathies together with Noonan syndrome (NS) and neurofibromatosis type 1 (NF1) and other emerging clinically related disorders, due to a common pathogenetic mechanism resulting in dysregulation of the RAS/MAPK pathway [ 2 ]. (biomedcentral.com)
- Growth charts specific for Noonan syndrome are available and can be used to plot an individual's height, weight, and head circumference. (medscape.com)
- Careful follow-up evaluation of patients with Noonan syndrome is needed for early identification of bleeding diathesis, malignancy, and hypertrophic cardiomyopathy. (medscape.com)
- Noonan syndrome: clinical features, diagnosis, and management guidelines. (medscape.com)
- Bhambhani V, Muenke M. Noonan syndrome. (medscape.com)
- Allen MJ, Sharma S. Noonan Syndrome. (medscape.com)
- Dahlgren J, Noordam C. Growth, Endocrine Features, and Growth Hormone Treatment in Noonan Syndrome. (medscape.com)
- Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. (medscape.com)
- Growth patterns of patients with Noonan syndrome: correlation with age and genotype. (medscape.com)
- Croonen EA, Draaisma JMT, van der Burgt I, Roeleveld N, Noordam C. First-year growth in children with Noonan syndrome: associated with feeding problems? (medscape.com)
- Draaisma JMT, Drossaers J, van den Engel-Hoek L, Leenders E, Geelen J. Young children with Noonan syndrome: evaluation of feeding problems. (medscape.com)
- Niemczyk J, Equit M, Borggrefe-Moussavian S, Curfs L, von Gontard A. Incontinence in persons with Noonan Syndrome. (medscape.com)
- External ear anomalies and hearing impairment in Noonan Syndrome. (medscape.com)
- The face of Noonan syndrome: Does phenotype predict genotype. (medscape.com)
- van Trier DC, Vos AM, Draaijer RW, van der Burgt I, Draaisma JM, Cruysberg JR. Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients. (medscape.com)
- Miyamoto JJ, Yabunaka T, Moriyama K. Cervical characteristics of Noonan syndrome. (medscape.com)
- PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. (medscape.com)
- Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. (medscape.com)
- Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). (bvsalud.org)
- LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. (bvsalud.org)
- In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1. (bvsalud.org)
- A 21-year-old man with Noonan syndrome was scheduled. (koreamed.org)
- Purpose: Recombinant human growth hormone (rhGH) has been used to improve growth in children with Noonan syndrome (NS). (koreamed.org)
- Clinicians often have difficulties diagnosing patients with subtle phenotypes of Noonan syndrome phenotypes. (koreamed.org)
- BACKGROUND AND OBJECTIVES: Hearing loss is a common complication associated with Noonan syndrome (NS), and the level of hearing loss for NS patients with sensorineural loss ranged from normal to. (koreamed.org)
- Noonan syndrome is characterized by distinctive facial features, short stature, and congenital heart disease. (koreamed.org)
- Noonan syndrome (NS) is a genetic disorder caused by autosomal dominant inheritance and is characterized by a distinctive facial appearance, short stature, chest deformity, and congenital heart disease. (koreamed.org)
- Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. (beds.ac.uk)
- Mutations in the HRAS gene cause Costello syndrome. (medlineplus.gov)
- It is unclear how mutations in the HRAS gene cause the other features of Costello syndrome, but many of the signs and symptoms probably result from cell overgrowth and abnormal cell division. (medlineplus.gov)
- Some people with signs and symptoms like those of Costello syndrome do not have an identified mutation in the HRAS gene. (medlineplus.gov)
- Costello syndrome is a very rare genetic condition, under the umbrella of RASopathies, which results from HRAS gene mutations. (patientworthy.com)
- Costello syndrome (CS) is a rare disorder affecting development and growth characterized by cancer predisposition and caused by mutations in HRAS proto-oncogene . (bvsalud.org)
- 22. Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome. (nih.gov)
- 24. Recurrent duplication mutation in HRAS causing mild Costello syndrome in a Chinese patient. (nih.gov)
- 28. MEK-inhibitor-mediated rescue of skeletal myopathy caused by activating Hras mutation in a Costello syndrome mouse model. (nih.gov)
- 30. Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D. (nih.gov)
- 31. Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation. (nih.gov)
- 35. Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndrome. (nih.gov)
- 37. The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy. (nih.gov)
- 38. High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities. (nih.gov)
- 39. Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. (nih.gov)
- 23. Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation. (nih.gov)
- 24. C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome. (nih.gov)
- 26. Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome. (nih.gov)
- 34. HRAS and the Costello syndrome. (nih.gov)
- 36. Fetal Costello syndrome: description of phenotype of HRAS exon 1 mutations. (nih.gov)
- 39. 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. (nih.gov)
- Mutations that cause Costello syndrome lead to the production of an H-Ras protein that is abnormally turned on (active). (medlineplus.gov)
- Germline mutations in H-Ras protein can cause Costello syndrome. (nih.gov)
- Mutations in this gene are also associated with cardiofaciocutaneous, Noonan, and Costello syndromes, which exhibit overlapping phenotypes. (nih.gov)
- Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g. (nih.gov)
- Polycystic Ovary Syndrome (PCOS) is a complex condition with mechanisms likely to involve the interaction between genetics and lifestyle. (mdpi.com)
- Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. (medscape.com)
- 36. Skeletal muscle pathology in Costello and cardio-facio-cutaneous syndromes: developmental consequences of germline Ras/MAPK activation on myogenesis. (nih.gov)
- Costello syndrome is a disorder that affects many parts of the body. (medlineplus.gov)
- also known as Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycan (GAG) accumulation. (nih.gov)
- The neurodevelopmental disorder Angelman syndrome (AS) is characterized by intellectual disability, motor dysfunction, distinct behavioral aspects, and epilepsy. (frontiersin.org)
- Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by loss of the maternal allele of the UBE3A gene. (frontiersin.org)
- Cardiofaciocutaneous (CFC) syndrome is a disorder that affects many parts of the body, particularly the heart, face, skin, and hair. (nih.gov)
- CHD7 disorder encompasses the entire phenotypic spectrum of heterozygous CHD7 pathogenic variants that includes CHARGE syndrome as well as subsets of features that comprise the CHARGE syndrome phenotype. (beds.ac.uk)
Pathophysiology and Treatment2
- This Funding Opportunity Announcement (FOA) issued by the Office of Research on Women's Health (ORWH) and co-sponsoring Institutes and Centers (ICs) of the National Institutes of Health (NIH) encourages investigator(s)-initiated applications that propose to examine the etiology, diagnosis, pathophysiology, and treatment of chronic fatigue syndrome (CFS), also known as myalgic encephalomyelitis (ME/CFS) in diverse groups and across the lifespan. (nih.gov)
- The Office of Research on Women's Health (ORWH) and cosponsoring Institutes and Offices (IC) of the National Institutes of Health (NIH) invite submission of investigator-initiated research grant applications to support research on the epidemiology, diagnosis, pathophysiology, and treatment of chronic fatigue syndrome (CFS) in diverse groups and across the life span. (nih.gov)
- Niemeyer, C.M. & Kratz, C.P. Paediatric myelodysplastic syndromes and juvenile myelomonocytic leukaemia: molecular classification and treatment options. (nature.com)
- European Working Group on Myelodysplastic Syndromes in Childhood (EWOG-MDS). (nature.com)
- DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma. (beds.ac.uk)
Polycystic Ovary Sy2
- These syndromes belong to a group of related conditions called the RASopathies, which are distinguished by their genetic causes and specific pattern of features. (nih.gov)
- CFC syndrome is usually caused by a genetic change in the BRAF gene, but can also be due to a genetic change in the MAP2K1, MAP2K2 or KRAS gene. (nih.gov)
- Facial recognition technology can help in the identification of several genetic syndromes with facial dysmorphic features, especially. (koreamed.org)
- The pathogenesis and molecular basis of the syndrome are unknown and the diagnosis is reliant on clinical expertise. (nih.gov)
- Home » Costello Syndrome » How a Costello Syndrome Diagnosis Helped This Dad Develop mejo for Caregivers (Pt. (patientworthy.com)
- My son has Costello syndrome, but he is not defined by his diagnosis," Ryan Sheedy tells me about his son, Reynolds. (patientworthy.com)
- After undergoing a whole genome study, Ashley and Ryan finally received their son's diagnosis when he was 18 months old: Costello syndrome, with a G12F variant. (patientworthy.com)
- Other signs and symptoms of Costello syndrome can include tight Achilles tendons (which connect the calf muscles to the heel), weak muscle tone (hypotonia), a structural abnormality of the brain called a Chiari I malformation, skeletal abnormalities, dental problems, and problems with vision. (medlineplus.gov)
- AS is caused by a loss of the maternally expressed UBE3A gene, and many of the symptoms are recapitulated in a Ube3a mouse model of this syndrome. (frontiersin.org)
- From symptoms of schizophrenia to syndromes of schizophrenia. (bvsalud.org)
- En C. G. Costello (Ed.), Symptoms of Schizophrenia . (bvsalud.org)
- While the majority of individuals with Costello syndrome share characteristic findings affecting multiple organ systems, the phenotypic spectrum is wide, ranging from a milder or attenuated phenotype to a severe phenotype with early lethal complications. (nih.gov)
- Reported estimates of Costello syndrome prevalence range from 1 in 300,000 to 1 in 1.25 million people. (medlineplus.gov)
- Alison Boyce , who became a Lasker Scholar in 2020, is searching for treatments for fibrous dysplasia/McCune-Albright syndrome (FD/MAS), a rare and debilitating skeletal disease that can cause bone fractures, deformity, pain, and loss of ambulation, vision, and hearing. (nih.gov)
- 32. Neurocognitive, adaptive, and behavioral functioning of individuals with Costello syndrome: a review. (nih.gov)
- Individuals with Costello syndrome have an approximately 15% lifetime risk for malignant tumors including rhabdomyosarcoma and neuroblastoma in young children and transitional cell carcinoma of the bladder in adolescents and young adults. (beds.ac.uk)
- Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. (unicatt.it)
- Beginning in early childhood, people with Costello syndrome are at an increased risk of developing certain cancerous and noncancerous tumors. (medlineplus.gov)
- The most common cancerous tumor associated with Costello syndrome is a childhood cancer called rhabdomyosarcoma, which begins in muscle tissue. (medlineplus.gov)
- The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. (bvsalud.org)
- Phe156Leu) variant in two patients with attenuated features of Costello syndrome. (nih.gov)
- Fanconi-Bickel syndrome (FBS) is a rare condition of carbohydrate metabolism, caused by a recessive defect in the facilitative glucose transporter GLUT2 encoded by the SLC2A2 gene and characterized by a wide spec. (biomedcentral.com)
- Growth hormone (GH) deficiency is common in patients with Prader-Willi syndrome (PWS) and leads to short adult stature. (biomedcentral.com)
- A child with split-hand/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome region 17p13.3. (medunigraz.at)