Genetic disorders

#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 #Metabolic diseases #T

Tay-Sachs disease

By Sama Mohamed

What is Tay-Sachs disease? Tay-Sachs disease is a genetic disorder that causes permanent brain damage. Tay-Sachs disease is more common in people of Ashkenazi Jewish heritage, a group of people whose heritage is from central and eastern Europe. About 1 in 25 members of this community carry the gene for Tay-Sachs disease. What are the types of Tay-Sachs disease? There are 2 main types of Tay-Sachs disease — the infantile form, which is far more common, and the late-onset form. What are the symptoms of Tay-Sachs disease? Children with Tay-Sachs disease are healthy when they are born but start developing

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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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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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#Genetic disorders #N #Nervous system diseases

Neurofibromatosis

By Sama Mohamed

Key facts Neurofibromatosis is a genetic condition characterised by the growth of benign tumours. There are 3 types: neurofibromatosis type 1, type 2 and schwannomatosis. A common sign is ‘café au lait’ spots, harmless coffee-coloured skin patches, and a common presentation is having vision problems. Neurofibromatosis is usually diagnosed in childhood. Neurofibromatosis is not curable, but is manageable and many people with the condition lead normal lives. What is neurofibromatosis? Neurofibromatosis is a genetic condition characterised by the growth of neurofibromas. These are a type of tumour that is usually benign, or non-cancerous, although in rare cases they can be cancerous. These neurofibromas

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#Genetic disorders #V

Von Willebrand disease

By Dr. Ahmed Hafez

What is von Willebrand disease? Von Willebrand disease is a bleeding disorder passed down in the genes you inherit from one’s parents. It is similar to haemophilia, but more common and usually less severe. If you have von Willebrand disease, you don’t have enough of a clotting factor called von Willebrand factor, or the factor doesn’t work properly. The result is that it takes longer than normal for your blood to clot and for bleeding to stop. Von Willebrand disease is also called von Willebrand disorder, or VWD. Types of von Willebrand disease There are 3 types of VWD: Type 1

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#Genetic disorders #T

Thalassaemia

By Dr. Ahmed Hafez

What is thalassaemia? Thalassaemia is an inherited genetic disorder that affects the blood and causes lifelong anaemia. People with thalassaemia do not produce enough healthy haemoglobin, which makes their blood cells small and pale. Haemoglobin is a protein found in red blood cells that carries oxygen from the lungs to the rest of the body. People born with thalassaemia cannot move oxygen around the body properly. Depending on the type of thalassaemia they have, they may need regular blood transfusions to stay alive. What causes thalassaemia? Thalassaemia is caused when someone inherits gene mutations (‘spelling errors’ in the DNA in genes)

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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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#Genetic disorders #H

Huntington’s disease

By Sama Mohamed

Key facts Huntington’s disease is an inherited condition that affects the nervous system. Huntington’s disease is caused by a faulty gene that someone is born with. The most identifiable physical symptom is called chorea — rapid, involuntary movements of the fingers, limbs or facial muscles. Other cognitive and emotional symptoms include impulsiveness and difficulty communicating. There is currently no cure or effective treatment for Huntington’s disease. What is Huntington’s disease? Huntington’s disease is an inherited condition that affects the nervous system. Although Huntington’s disease can occur at any age, symptoms often do not appear until your 40s or 50s. Huntington’s disease is

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#Genetic disorders #H

Haemophilia

By Sama Mohamed

Key facts Haemophilia is an inherited bleeding disorder, which means it can be passed on from birth parents to their children. If you have haemophilia, your blood doesn’t clot properly, which makes it difficult to control bleeding. Some people have mild haemophilia, while others are more severely affected. The main symptoms of haemophilia are easy bruising, having large bruises, and greater than normal bleeding from surgery or menstruation. There is no cure for haemophilia, but heavy bleeding can be controlled with medical treatment. What is haemophilia? Haemophilia is an inherited bleeding disorder, which means it can be passed on from

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#Genetic disorders #H #Metabolic diseases

Haemochromatosis

By Sama Mohamed

What is haemochromatosis? Haemochromatosis is an inherited condition that causes the body to absorb and store too much iron. In some cases of haemochromatosis, the extra iron can lead to organ damage. In people with haemochromatosis, too much iron is absorbed from the gut, leading to iron overload. The human body controls iron levels by absorbing just the right amount of iron from food. It has no method of excreting excess iron — any excess is stored in organs and joints in the body. This can lead to damage to the liver, heart, pancreas, thyroid and other organs. What are

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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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#F #Genetic disorders #Metabolic diseases

Fabry disease

By Sama Mohamed

What is Fabry disease? Fabry disease is a rare genetic condition with many different symptoms that often begin in childhood. Treatments are available to help manage the symptoms Fabry disease is a genetic disorder that belongs to a group of diseases known as lysosomal storage diseases. If you have Fabry disease, you don’t have enough of an enzyme that’s needed to break down a certain type of fat in your cells. (An enzyme is a chemical, produced within the body, that helps this process to occur.) As a result, the fat builds up in your body, causing a range of symptoms. Fabry

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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

Duchenne muscular dystrophy

By Sama Mohamed

What is Duchenne muscular dystrophy? Duchenne muscular dystrophy, or DMD, is a debilitating genetic condition that causes a gradual loss of muscle function that affects everyday movements and activities. Muscular dystrophy is a condition that causes progressive wasting of the muscles. Duchenne muscular dystrophy is a particular type of muscular dystrophy caused by a mutation in the DMD gene. It affects more boys than girls. The DMD gene helps produce a protein called dystrophin, which is important for muscle strength, support and repair. People with Duchenne muscular dystrophy don’t produce the normal form of dystrophin, which means their muscles are more

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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 #Genetic disorders

Cystic fibrosis (CF)

By Sama Mohamed

Key facts Cystic fibrosis (CF) is a disease that mostly affects your lungs and digestive system. CF is caused by a mutation (change) in a gene which is inherited (passed on) from your parents. Currently, there is no cure for CF. What is cystic fibrosis? Cystic fibrosis (CF) is a genetic disease that mostly affects your lungs and digestive system. It results from a change in a particular gene. CF causes you to get a lot of very thick and sticky mucus in your: lungs airways digestive system This causes problems with: digesting your food repeated lung infections, which can permanently damage your

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#C #Endocrine disorders and diseases #Genetic disorders

Congenital adrenal hyperplasia

By Sama Mohamed

What is congenital adrenal hyperplasia? Congenital adrenal hyperplasia, or CAH, is an inherited group of conditions that affects the adrenal glands. These glands, which sit above the kidneys, make hormones such as cortisol, aldosterone (which helps to regulate salt levels in the body) and androgens (male sex hormones). In many cases, a person who has CAH makes too many androgens and not enough cortisol and aldosterone. CAH can affect a child’s normal growth and development, including normal growth of the genitals. What are the types of congenital adrenal hyperplasia? There are 2 main types of CAH. Classic CAH is the more severe form and

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#C #Genetic disorders

Charcot-Marie-Tooth disease

By Sama Mohamed

What is Charcot-Marie-Tooth disease? Charcot-Marie-Tooth (CMT) disease is an inherited neurological condition that causes problems with the muscles of your feet, legs, arms and hands. Although there is currently no cure, people with CMT can use a variety of therapies and strategies to help manage their symptoms. CMT disease (sometimes called hereditary motor and sensory neuropathy) is not a single disease but a group of genetic conditions affecting the nervous system. Named after the 3 doctors who first described it (Charcot, Marie and Tooth), CMT disease is a progressive condition, which means it tends to get worse over time. It affects

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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 #Joint diseases and problems

Ankylosing spondylitis

By Sama Mohamed

Key facts Ankylosing spondylitis (AS) is a kind of arthritis that mainly affects your spine. It often begins before the age of 40 years. Ankylosing spondylitis affects males more often than females. It’s not known what causes ankylosing spondylitis. There’s no cure for ankylosing spondylitis, but medicines can help manage your symptoms. What is ankylosing spondylitis? Ankylosing spondylitis (AS) is a kind of arthritis that mainly affects the joints and ligaments of your spine (back bone). ‘Ankylosing’ means stiff and ‘spondylo’ means vertebra. It can also affect other large joints, like your hips and shoulders. Ankylosing spondylitis can also cause

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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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#A #Al- #Genetic disorders

Albinism

By Sama Mohamed

What is albinism? Albinism is a group of genetic conditions in which a person has no or very little melanin pigment in their skin, hair and eyes. Albinism occurs in all racial and ethnic groups throughout the world. In Australia, about 1 in 17,000 people have some type of albinism. It is important for people with albinism to protect their skin and eyes from the sun, and have their eyes checked regularly. The genes for albinism are passed down from both parents, who may not be directly affected by it themselves. However, there is no simple test to determine whether

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