syndrome

#Genetic disorders

Williams syndrome

By Dr. Ahmed Hafez

What is Williams syndrome? Williams syndrome is a genetic condition present from birth that occurs because a small piece of chromosome 7 does not form properly after conception. Williams syndrome can’t be cured, but treatment can help manage the symptoms, especially if started early. What are the symptoms of Williams syndrome? Williams syndrome can cause delays in a child’s development and learning. They can have problems with: speech, with the first word coming as late as 3 years of age motor skills such as walking and toilet training doing activities such as drawing or puzzles However, children with Williams syndrome

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#Genetic disorders #R

Rett syndrome

By Sama Mohamed

What is Rett syndrome? Rett syndrome is a rare genetic disorder caused by a mutation in a gene on the X chromosome. It is named after Andreas Rett, the doctor who originally described it. The disorder usually results from a random genetic mutation rather than being inherited. It mainly affects girls. Rett syndrome affects the nervous system, causing intellectual and physical disability. While it is a life-long condition with no cure, treatment and therapies can help manage symptoms, especially if started early. What are the symptoms of Rett syndrome? Rett syndrome can cause different symptoms, ranging from mild to severe, that can

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#Endocrine disorders and diseases #Genetic disorders #Growth disorders #T #Women's health

Turner syndrome

By Dr. Ahmed Hafez

What is Turner syndrome? Turner syndrome is a genetic disorder affecting some females. It might cause problems with hearing, vision and fertility. It does not usually affect intellectual ability. Treatment with hormones can help manage some of the problems. Turner syndrome is a genetic disorder. This means there has been a change in the person’s DNA. Normally, a female has two X chromosomes in each cell. Turner syndrome happens when all or part of one of these X chromosomes is missing. The change in DNA can affect the child’s development. Turner syndrome affects about 1 in every 2,500 females born

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#Genetic disorders #P

Prader-Willi syndrome

By Sama Mohamed

What is Prader-Willi syndrome? Prader-Willi syndrome (PWS) is a genetic condition. It is caused by missing genes on chromosome 15. This happens by chance. Although it has no cure, treatment, especially if received early on, can help with symptoms. What are the symptoms of Prader-Willi syndrome? In babies, typical signs of PWS include: floppiness, difficulty sucking to feed, and delays in learning to sit and crawl, all caused by weakened muscles sleeping more than normal a weak cry failure to thrive From around 2 years of age, affected children can start to develop other symptoms such as: an insatiable appetite, leading to excessive weight

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#Genetic disorders #Neurodiversity and neurodivergence #T

Tourette syndrome

By Dr. Ahmed Hafez

Key facts Tourette syndrome is a genetic inherited neurological disorder, which means it can be passed on from birth parents to their children. Signs of Tourette syndrome usually begins between 2 and 21 years of age. It causes people to make involuntary and uncontrollable vocal sounds and movements called tics. People with movement tics can find themselves jerking their head, stretching their neck, stamping their feet, and twisting and bending. People with vocal tics might clear their throat, cough, sniff, click their tongue, grunt, yelp, bark or shout. There is no cure for Tourette syndrome, but treatment with medicines can

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#Genetic disorders #N

Noonan syndrome

By Sama Mohamed

What is Noonan syndrome? Noonan syndrome is a rare genetic condition present from birth, that causes a distinctive appearance and a range of health problems. People with Noonan syndrome may be mildly affected, or more severely affected. How the disorder affects people with Noonan syndrome can change as they get older. Noonan syndrome is caused by a genetic mutation in any one of several different genes. In about half of all cases the condition is inherited, although the parent who passed the condition on to their child may not even know that they carry the faulty gene because they show

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#T

Thrombosis with thrombocytopenia syndrome (TTS)

By Dr. Ahmed Hafez

Key facts The AstraZeneca COVID-19 vaccine has been linked to a new, very rare blood-clotting condition called thrombosis with thrombocytopenia syndrome (TTS). The AstraZeneca vaccine is no longer used in Australia. Symptoms of TTS were known to have occurred between 4 and 42 days after vaccination with the AstraZeneca vaccine. TTS is diagnosed using blood tests and imaging scans — such as a CT scan. Once identified, TTS can be treated effectively in hospital. What is thrombosis with thrombocytopenia syndrome? Thrombosis with thrombocytopenia syndrome (TTS) is a very rare, new and specific syndrome. It occurs when a person has blood

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#Connective tissue diseases #Genetic disorders #M

Marfan syndrome

By Sama Mohamed

What is Marfan syndrome? Marfan syndrome (also known as Marfan’s syndrome) is a disorder that affects the connective tissue that strengthens and stabilises the joints and muscles. It generally affects the limbs, but can also affect the skeleton, eyes, lungs, heart and nervous system. It is usually inherited from a parent with the condition. Marfan syndrome used to cut short people’s lives, but now people have a normal life expectancy What are the symptoms of Marfan syndrome? People with Marfan syndrome are often tall and slim, with longer than usual limbs, fingers and toes. They may have a long, thin

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#Genetic disorders #K

Klinefelter syndrome

By Sama Mohamed

Key facts Klinefelter syndrome is a congenital (from birth) condition, where males are born with one or more extra X chromosomes. Young children with Klinefelter syndrome can have motor and language delay, as well as learning and behavioural problems. Adolescents and adults with Klinefelter syndrome may notice that they have a small penis and testicles, less facial and body hair and larger breasts than expected. Many people with Klinefelter syndrome don’t know they have it and have never received treatment. Testosterone therapy, usually started at puberty, can help with many of these features of Klinefelter syndrome. What is Klinefelter syndrome?

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#F #Genetic disorders

Fragile X syndrome

By Sama Mohamed

Key facts Fragile X syndrome is an inherited condition that causes intellectual disability and a range of physical, behavioural and emotional symptoms. Symptoms may include learning difficulties, movement and communication problems, anxiety and autism. Females are usually less affected than males. There is no cure, but treatments are available to help with symptoms. If you are a Fragile X carrier, you usually won’t have any symptoms, but you could pass on the condition to your children. Fragile X syndrome is an inherited, life-long condition that can cause a range of problems. Early diagnosis and treatment can help those affected to

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#Connective tissue diseases #E #Genetic disorders #Joint diseases and problems

Ehlers-Danlos syndrome

By Sama Mohamed

What is Ehlers-Danlos syndrome? Ehlers-Danlos syndrome is a genetic condition that mainly affects the joints, skin and walls of the blood vessels. People with Ehlers-Danlos syndrome, or EDS, have very loose, hypermobile joints. Their skin is stretchy and fragile. Ehlers-Danlos syndrome can’t be treated, but the symptoms can usually be managed. What are the symptoms of Ehlers-Danlos syndrome? There are many different types of EDS. All of them involve extremely flexible joints and fragile skin that bruises and stretches easily. Some find their joints are so flexible that they have frequent dislocations, and this often leads to pain in the joints.

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#D #Genetic disorders

Down syndrome

By Sama Mohamed

What is Down syndrome? Down syndrome is a genetic condition. It’s not an illness or disease. There are 3 types of Down syndrome. The 3 types of Down syndrome Trisomy 21 Most people with Down syndrome have trisomy 21. This is when they are born with 3 copies of chromosome 21 in every cell (most people have only 2 copies). Translocation Down syndrome Some people with Down syndrome are born with part or all of the chromosome 21 attached (translocated) to another chromosome. Mosaic Down syndrome This is when only some of the person’s cells have an extra copy of chromosome

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#C #Gastrointestinal illnesses #Malabsorption syndromes

Coeliac disease

By Sama Mohamed

  Coeliac disease   What is coeliac disease? Coeliac disease (pronounced SEE-lee-ak) is an autoimmune disease. In people with coeliac disease, the lining of the small bowel is damaged by even tiny amounts of gluten. Gluten is a protein found in grains such as wheat, rye, barley and oats. Coeliac disease affects people of all ages and genders. It runs in families and can develop at any age from infancy to adulthood. Currently, the only available treatment is with a gluten-free diet. Early diagnosis and treatment of coeliac disease significantly reduces the risk of most complications. You should tell family who share your

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#A #Genetic disorders

Apert syndrome

By Sama Mohamed

What is Apert syndrome? Apert syndrome is a rare genetic disorder that affects around 1 in every 65,000 newborn babies. Usually neither parent has the condition, and the gene mutation has come about by chance. The mutation, usually evident at birth, causes the bones of the skull to fuse together much earlier than usual, before the brain is fully grown. Pressure from the brain as it grows pushes the bones of the head and face out of shape. This brain compression can affect a child’s intellectual development. Apert syndrome also affects the hands and feet and a range of internal

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#A #Genetic disorders

Angelman syndrome

By Sama Mohamed

Key facts Angelman syndrome is a genetic condition that occurs if a gene called UBE3A is missing or faulty. People with Angelman syndrome have severe intellectual disability and delayed development, speak very little and often laugh and smile for no apparent reason. Angelman syndrome is usually diagnosed using a genetic test called DNA microarray testing. Angelman syndrome can’t be cured, but there is a range of therapies that can improve the quality of life of those affected. What is Angelman syndrome? Angelman syndrome is a genetic condition. It occurs if a gene called UBE3A is missing or faulty. When this

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