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by: María José Molano

1)      What is it name?

Marfan 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.

2)      Why does it happen?

Marfan syndrome is caused by a mutation in a gene called FBN1. The mutation limits the body’s ability to make proteins needed to build connective tissue.1, One in four people with Marfan syndrome develops the condition for unknown reasons.1 A person with Marfan syndrome has a 1 in 2 chance of passing it on to their child.

3)      What are the symptoms?

The symptoms of Marfan syndrome vary from person to person because connective tissue is found throughout the body, but those are the main symptoms:

- Arms, legs, fingers, and toes that are longer in relation to the rest of the body.

- Chest wall (sternum) that caves in or sticks out.

- Curvature of the spine.

- Flat feet.

- Headaches.

- Heartbeat that feels like it is skipping a beat, fluttering, or beating too hard or too fast.

- Highly arched roof of the mouth (palate) that can lead to crowding of teeth.

- Loose joints.

- Long, narrow face.

- Low back pain and numbness in the legs.

- Shortness of breath due to changes in the lungs or heart.

- Stretch marks on the skin.

- Vision changes, such as blurry vision and extreme nearsightedness.

4)   How common is it in the world?

Recent estimates suggest one in 3,000–5,000 people have Marfan syndrome. Men, women and different ethnic groups all have a similar risk. It is really rare  happening in about 1 in 5,000 people

5)     Is there a treatment?

- Treatment depends on which parts of the body are affected. An aortic aneurysm may be treated with medicine or medicine plus surgery. Medicine is used to lower blood pressure to help prevent an aneurysm from rupturing and causing a dissection of the aorta.

- Severe scoliosis and breastbone problems may require surgery. Eye conditions may also require surgery.

6) Are the alleles that cause this disease recessive or dominant?

In around 3 in 4 cases, Marfan syndrome is inherited from 1 parent.

The syndrome is autosomal dominant, which means a child can inherit it even if only 1 parent has the syndrome.

There is therefore a 1 in 2 chance that the child of a parent with Marfan syndrome will inherit the syndrome.

references:

Website, N. (2023, 29 junio). Marfan syndrome. nhs.uk. https://www.nhs.uk/conditions/marfan-syndrome/#:~:text=In%20around%203%20in%204,syndrome%20will%20inherit%20the%20syndrome.

Department of Health & Human Services. (s. f.). Marfan syndrome. Better Health Channel. https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/marfan-syndrome#:~:text=Other%20common%20problems%20include%20spinal,all%20have%20a%20similar%20risk.

Branch, N. S. C. A. O. (2023, 15 diciembre). Marfan Syndrome. National Institute Of Arthritis And Musculoskeletal And Skin Diseases. https://www.niams.nih.gov/health-topics/marfan-syndrome

Marfan Syndrome | Cdc.gov. (2019, 3 diciembre). Centers For Disease Control And Prevention. https://www.cdc.gov/heartdisease/marfan_syndrome.htm#:~:text=Marfan%20syndrome%20is%20caused%20by,needed%20to%20build%20connective%20tissue.&text=One%20in%20four%20people%20with,the%20condition%20for%20unknown%20reasons.

Healthdirect Australia. (s. f.). Marfan syndrome. Healthdirect. https://www.healthdirect.gov.au/marfan-syndrome

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What is it name?

The Wilson's disease (hepatolenticular degeneration), is based in the not elimination of copper in the liver, reason why it accumulates and arrive to killer cuantities. It is an inhereted disease hat develops between the 12 and 23 years old, it can cause liver failure, cirrhosis, neurological problems and more.

Why does it happen?

It is an inherited disease, that can be given because both of the parents inherited a copy of the gen.

What are the symptoms?

On eof the most important symptoms is the liver failures and neurological affections, but it actually shows in a lot of more ways because of the great amount of copper in tesystem. The symptoms as wel can be: vomiting, weakness, ascites, swelling of the legs, yellowish skin, and itchiness, this in relation with liver failures concequences, but in the neurodegenerative part,it can cause, tremors, muscle stiffness, trouble speaking, personality changes, anxiety, and auditory or visual hallucinations. It can as well cause abdominal pain and jaundice (change of color in the white part of the eye.)

How common is it in the world?

According to a section of jthe ournal Scielo, between 10 to 30 cases by every million people, is presented this ihereted disease, or 1 in 30,000 people according to the StatPearls.

Is there a treatment?

There is a therapy based in penicillamine and trientine, but this subatance can sometimes be damaging for the body, so it is recomended a diet low in copper and not using copper uttensils when cooking.

Are the alleles that cause this disease recessive or dominant?

The alleles afected by this is a mutation in the gene ATP7B, located in the chromosome 13, it is recesive and to be visible or to happen, the would be neede a copy of the gen from each parent to be inherited.

References:

https://www.ncbi.nlm.nih.gov/books/NBK441990/

Enfermedad de Wilson (isciii.es)

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Mª Valentina Acevedo N. 9º1

1) What's that?

Is a genetic disease that provoces intellectual deficiency. Its the most popular genetic disease that generates that and affect women and men, but in women its more lowly.

2) Why does it happen?

The gene X needs to produce a protein that its important for brain development, but in this case this protein doesn't produce or produce in small quantities.

3) Symptoms:

Physically talking, the people that have this syndrome have big ears, flat feet and a outstretched face.

In the other aspects, the people can have anxiety, hyperactivity, incapability of learning, speech retardment and in some individuals convulsion.

4) Treatments:

The Mayo Clinic said that if the person with this condition requires a treatment because is in a serious situation, some terapies and vitamins or medicins that relax muscles and improve its cognitive development can be worth it.

5) How common it is?

It affect 1 of 4000 men and 1 of 8000 women, but 1 of 600 of the women can be carriers.

6) Dominant or resesive?

This syndrome is and autosomal dominant disorder, that means that if a couple are heterozygous of this disease it is more probability that their child has this syndrome.

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Is a genetic heart condition where the heart muscle becomes abnormally thick, making it harder for the heart to pump blood

1. Why does it happen?

Hypertrophic cardiomyopathy is primarily caused by genetic mutations affecting proteins in the heart muscle cells. These mutations lead to an abnormal thickening of the heart muscle, making it less flexible and affecting its ability to pump blood efficiently.

2. What are the symptoms?

Symptoms of hypertrophic cardiomyopathy can vary, and some individuals may not experience any symptoms. Common signs include shortness of breath, chest pain or discomfort, fatigue, dizziness, fainting, and an irregular heartbeat.

3. How common is it in the world?

is considered a relatively rare condition, but its prevalence can vary among populations. It’s estimated to affect about 1 in 500 people worldwide.

4. Is there a treatment

Treatment for hypertrophic cardiomyopathy includes medications, lifestyle adjustments, and, in severe cases, surgical options like septal myectomy or alcohol septal ablation. Regular monitoring and consultation with healthcare professionals are crucial for managing symptoms and preventing complications.

5. Are there alleles the cause this disease recessive or dominant?

Hypertrophic cardiomyopathy is usually inherited in an autosomal dominant manner, meaning a person with one affected parent has a 50% chance of inheriting the condition. Genetic testing can identify associated mutations.

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Silvana Méndez

Context:

Life-threatening inherited disorder that damages the lungs and digestive system. It is a disease that affects the cells that produce mucus, sweat and gastric juices. It causes thick, sticky mucus in the lungs, digestive tract, and other areas of the body.

Symptoms:

persistent cough with thick mucus, wheezing, exercise intolerance, recurrent lung infections, swollen or congested nasal passages, sinusitis

Treatment:

There is no cure, but it can be relieved with treatment. Supportive care (sodium chloride) Medications (dietary supplement, antibiotic, cough suppressant) personal care (postural drainage) medical procedure (chest wall oscillations)

Source:

mayoclinic.org

medlineplus.gov

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Color blindness, also known as color vision deficiency, is caused by genetic factors. The most common types are red and green color blindness, in these cases peoplehave a hard time diferentiating between red and green. This has two scientific names wich are deuteranopia  that means green blindness, or protanopia that means red blindness.

Causes:

Color blindness is inherited in the X chromosome. The genes that are for normal color vision are from the X chromosome. Males have only one X chromosome, so if they geta color blindness gene from their parents the possibilities of color blindness are super high. Un like males females have two X chromosomes so if there is a mutation in one X chromosome can be compensated by the other because color blindness is a recessive gene.

Symptoms:

The one and only symptoms are not diferenciating colors, like red and green. And in extreme cases, people only see shades of gray.

Commones:

Color blindness is more common in males than females because males only have one X chromosomes, 8% of males and 0.5% of females with Northern European ancestry are affected by color blindness.

Treatment:

There is no actual cure for color blindness, but there are like special lenses or glasses that help seeing color, but its not really a cure.

References:

https://midtownvision.com/blog-posts/types-color-blindness

https://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/color-blindness/causes-color-vision-deficiency

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Ehlers –Danlos Syndrome (EDS)- Sara Lopez Barbosa

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Ehlers –Danlos Syndrome (EDS)- Sara Lopez Barbosa

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Ehlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications.

People who have Ehlers-Danlos syndrome usually have overly flexible joints and stretchy, fragile skin. This can become a problem if you have a wound that requires stitches, because the skin often isn't strong enough to hold them.

A more severe form of the disorder, called vascular Ehlers-Danlos syndrome, can cause the walls of your blood vessels, intestines or uterus to rupture. Because vascular Ehlers-Danlos syndrome can have serious potential complications in pregnancy, you may want to talk to a genetic counselor before starting a family.The various forms of Ehlers-Danlos syndrome have been classified in several different ways. Originally, 11 forms of Ehlers-Danlos syndrome were named using Roman numerals to indicate the types (type I, type II, and so on). In 1997, researchers proposed a simpler classification (the Villefranche nomenclature) that reduced the number of types to six and gave them descriptive names based on their major features. In 2017, the classification was updated to include rare forms of Ehlers-Danlos syndrome that were identified more recently. The 2017 classification describes 13 types of Ehlers-Danlos syndrome.

An unusually large range of joint movement (hypermobility) occurs in most forms of Ehlers-Danlos syndrome, and it is a hallmark feature of the hypermobile type. Infants and children with hypermobility often have weak muscle tone (hypotonia), which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation and chronic pain. In the arthrochalasia type of Ehlers-Danlos syndrome, infants have hypermobility and dislocations of both hips at birth.

Symptoms

There are many different types of Ehlers-Danlos syndrome, but the most common signs and symptoms include:

Overly flexible joints. Because the connective tissue that holds joints together is looser, your joints can move far past the normal range of motion. Joint pain and dislocations are common.

Stretchy skin. Weakened connective tissue allows your skin to stretch much more than usual. You may be able to pull a pinch of skin up away from your flesh, but it will snap right back into place when you let go. Your skin might also feel exceptionally soft and velvety.

Fragile skin. Damaged skin often doesn't heal well. For example, the stitches used to close a wound often will tear out and leave a gaping scar. These scars may look thin and crinkly.

Symptom severity can vary from person to person and depends on the specific type of Ehlers-Danlos syndrome that you have. The most common type is called hypermobile Ehlers-Danlos syndrome.

Causes

Different types of Ehlers-Danlos syndrome are associated with a variety of genetic causes, some of which are inherited and passed on from parent to child. If you have the most common form, hypermobile Ehlers-Danlos syndrome, there's a 50% chance that you'll pass on the gene to each of your children.

Complications

Complications depend on the types of signs and symptoms you have. For example, overly flexible joints can result in joint dislocations and early-onset arthritis. Fragile skin may develop prominent scarring.

People who have vascular Ehlers-Danlos syndrome are at risk of often fatal ruptures of major blood vessels. Some organs, such as the uterus and intestines, also may rupture. Pregnancy can increase the risk of a rupture in the uterus.

Prevention

If you have a personal or family history of Ehlers-Danlos syndrome and you're thinking about starting a family, you may benefit from talking to a genetic counselor — a health care professional trained to assess the risk of inherited disorders. Genetic counseling can help you understand the inheritance pattern of the type of Ehlers-Danlos syndrome that affects you and the risks it poses for your children.

https://www.mayoclinic.org/diseases-conditions/ehlers-danlos-syndrome/symptoms-causes/syc-20362125

https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome/#:~:text=Description&text=Ehlers%2DDanlos%20syndrome%20is%20a,joints%20to%20life%2Dthreatening%20complications.

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Overview

Ehlers-Danlos syndrome is a group of inherited disorders that affect your connective tissues - primarily your skin, joints and blood vessel walls. Connective tissue is a complex mixture of proteins and other substances that provide strength and elasticity to the underlying structures in your body.

People who have Ehlers-Danlos syndrome usually have overly flexible joints and stretchy, fragile skin. This can become a problem if you have a wound that requires stitches, because the skin often isn't strong enough to hold them.

A more severe form of the disorder, called Ehlers-Danlos syndrome, vascular type, can cause the walls of your blood vessels, intestines or uterus to rupture. Because Ehlers-Danlos syndrome, vascular type, can have serious potential complications in pregnancy, you may want to talk to a genetic counselor before starting a family.
Ehlers-Danlos syndrome care at Mayo Clinic
Symptoms

Classic Ehlers-Danlos syndrome

Signs and symptoms of the most common form of Ehlers-Danlos syndrome include:

Overly flexible joints. Because the connective tissue that holds joints together is looser, your joints can move far past the normal range of motion. Joint pain and dislocations are common.

Stretchy skin. Weakened connective tissue allows your skin to stretch much more than usual. You may be able to pull a pinch of skin up away from your flesh, but it will snap right back into place when you let go. Your skin might also feel exceptionally soft and velvety.

Fragile skin. Damaged skin often doesn't heal well. For example, the stitches used to close a wound often will tear out and leave a gaping scar. These scars may look thin and crinkly.

Symptom severity can vary from person to person. Some people with Ehlers-Danlos syndrome will have overly flexible joints, but few or none of the skin symptoms.

Ehlers-Danlos syndrome, vascular type

People who have Ehlers-Danlos syndrome, vascular type, often share distinctive facial features of a thin nose, thin upper lip, small earlobes and prominent eyes. They also have thin, translucent skin that bruises very easily. In fair-skinned people, the underlying blood vessels are very visible through the skin.

Ehlers-Danlos syndrome, vascular type, can weaken your heart's largest artery (aorta), as well as the arteries to other regions of your body. A rupture of any of these larger blood vessels can be fatal. The vascular type can also weaken the walls of the uterus or large intestines - which also may rupture.

Causes

Different types of Ehlers-Danlos syndrome are associated with a variety of genetic causes, some of which are inherited and passed on from parent to child. If you have the most common varieties of Ehlers-Danlos syndrome, there's a 50 percent chance that you'll pass on the gene to each of your children.

Complications

Complications depend on the types of signs and symptoms you have. For example, overly flexible joints can result in joint dislocations and early-onset arthritis. Fragile skin may develop prominent scarring.

People who have Ehlers-Danlos syndrome, vascular type, are at risk of often fatal ruptures of major blood vessels. Some organs, such as the uterus and intestines, also may rupture. Pregnancy can increase these risks.

Prevention

If you have a personal or family history of Ehlers-Danlos syndrome and you're thinking about starting a family, you may benefit from talking to a genetic counselor - a health care professional trained to assess the risk of inherited disorders. Genetic counseling can help you understand the inheritance pattern of the type of Ehlers-Danlos syndrome that affects you and the risks it poses for your children.

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Ehlers-Danlos syndrome - Symptoms and causes

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Ehlers-Danlos syndrome is a group of inherited disorders that affect your connective tissues - primarily your skin, joints and blood vessel walls. Connective tissue is a complex mixture of proteins and other substances that provide strength and elasticity to the underlying structures in your body.

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What is?

The genetic desease Charcot -Marie-Tooth  is a group of disorders that affects the peripheral nerves, causing problems with how signals travel through those nerves, as a result the person with the desease can’t control muscle movements.

Why does it happen?

It occurs when there are mutations in the genes, so this  damage the the nerves of different parts of the body like feet, legs, hands and arms.

Symptom

Charcot-Marie-Tooth disease symptoms usually begin in early teenage years, however the can start earlier during childhood or  during middle age.The symptoms could be disruptions on the Motor or sensitive signals.

Some motor signals could be:

Muscle weakness.

Paralysis.

Loss of muscle mass (muscle atrophy)

Decreased or no reflexes.

Hammertoes.

Foot drop (a very high foot arch).

Trips and falls because of gait disorders and changes in how the muscles in your legs and feet work.

And some Sensory could be

Inability to feel heat or pain sensations in your lower legs, feet and hands.

Creeping sensations in your legs.

Chronic pain.

Loss or decrease in other senses, especially vision and hearing (these are less common and usually only happen with specific subtypes of CMT).

How common is?

CMT is an uncommon condition overall. Research estimates put the number of people affected worldwide between 700,000 and 2 million.

Treatment

There is no cure for this disease. However it can be treated with physical and occupational therapies, also with orthopedic devices, and orthopedic surgery, this may help lowing the symptoms of the disease.

Alleles recessive or dominant?

The pattern of inheritance varies with the type of Charcot-Marie-Tooth disease. CMT1, most cases of CMT2, and most intermediate forms are inherited in an autosomal dominant

References

https://www.mayoclinic.org/diseases-conditions/charcot-marie-tooth-disease/symptoms-causes/syc-20350517#

https://www.google.com/search?q=treatment+charcot+marie+tooth+disease&ie=UTF-8&oe=UTF-8&hl=es-co&client=safari

https://my.clevelandclinic.org/health/diseases/6009-charcot-marie-tooth-disease-cmt

https://my.clevelandclinic.org/health/diseases/6009-charcot-marie-tooth-disease-cmt

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Silvana Rodriguez A

What is it?

Thalassemia is a blood disorder that affects hemoglobin, which is a protein in red blood cells that carries oxygen throughout the body.

Why does it happen?

People with thalassemia either don't make enough hemoglobin or their body makes an abnormal type of hemoglobin.

Types of Thalassemia

There are different types of thalassemia, with varying levels of severity. The most severe type is called thalassemia major, which can cause severe anemia, poor growth, and bone deformities. Treatment for thalassemia includes blood transfusions and medications.

Symptoms

The most common symptoms of thalassemia are:

- Anemia, which can cause fatigue, shortness of breath, and pale skin.

- Abdominal pain, which can be caused by an enlarged spleen or liver.

- Bone deformities, such as bowed legs, misshapen skull, and brittle bones.

- Slow growth and delayed puberty.

- Jaundice, which is yellowing of the skin and eyes.

- Dark urine and light-colored stools.

It's important to note that not all people with thalassemia will have all of these symptoms. The severity

How can it be controlled?

One of the most common treatments is blood transfusions, which replace missing red blood cells and increase hemoglobin levels. Another treatment is iron chelation therapy, which removes excess iron from the body. Medications can also be used to help manage symptoms, such as pain relievers for bone pain and growth hormone for slow growth. Additionally, a bone marrow transplant can be a curative treatment for some types of thalassemia.

How common is it ?

Thalassemia is one of the most common genetic blood disorders in the world. In fact, it's estimated that about 5% of the world's population carries a gene for thalassemia, though most of them don't have symptoms. Thalassemia is relatively rare, affecting about 1 in 10,000 people.

Are the alleles that cause this desease recessive or dominant ?

Thalassemia is an autosomal recessive disorder, which means that a person must inherit two defective alleles for the disorder to develop. If a person inherits one defective allele and one normal allele, they are considered a carrier for the disorder. If two carriers have a child, there is a 25% chance that the child will have thalassemia.

Resources

https://www.mayoclinic.org/diseases-conditions/thalassemia/symptoms-causes/syc-20354995

https://my.clevelandclinic.org/health/diseases/14508-thalassemias

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Melisa Camacho Revelo 9-1

What is it?

It is a genetic disease in which the sutures between the bones of the skull close earlier than normal. This affects the shape of the head and face. Children with Apert syndrome often also have hand and foot deformities.

Symptoms:

Some of the symptoms are a high, prominent forehead, underdeveloped upper jaw, prominent eyes, and fused fingers and/or toes. Fused fingers and toes distinguish Apert syndrome from other craniofacial disorders.

Causes:

It may be the result of a mutation in a gene called "fibroblast growth factor receptor 2," or FGFR2. The mutation occurs early in a pregnancy.

Apert syndrome can be inherited, or it may occur without a known family history. If one parent has Apert syndrome, there is a 50 percent chance that their child will be born with the disorder.

Most often the condition is caused by a new genetic change. (This means it was not inherited from the mother or father.) Other times, a parent passes an abnormal gene to a child.

The risk of having a child with Apert syndrome is higher if the father is older than 40.

It is dominant or recessive?

Apert syndrome is inherited autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Treatment:

There is no single care plan for Apert syndrome. The treatments depend on how the child is affected by the syndrome.

Sources:

https://www.childrenshospital.org/conditions/apert-syndrome#:~:text=What%20causes%20Apert%20syndrome%3F,occurs%20early%20in%20a%20pregnancy.

https://medlineplus.gov/spanish/ency/article/001581.htm#:~:text=Es%20una%20enfermedad%20gen%C3%A9tica%20en,manos%20y%20en%20los%20pies.

https://www.seattlechildrens.org/conditions/apert-syndrome/#:~:text=Most%20often%20the%20condition%20is,father%20is%20older%20than%2040.

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Salomé Guerrero

What is?

Angelman syndrome is a complex genetic disorder that primarily affects the nervous system and causes severe physical and learning disabilities.

Why does it happen?

Angelman syndrome occurs because the UBE3A gene passed on from the mother does not work as it should. In some cases, this syndrome is caused when two copies of the UBE3A gene come from the father and none from the mother.

It is usually caused by problems in a gene located on chromosome 15, which is known as the ubiquitin ligase E3A protein-producing gene (UBE3A).

Symptoms:

-Severe functional developmental delay.

-Cognitive delay.

-Movement and balance problems, mainly ataxia when walking (stiffness, clumsiness and loss of coordination) and trembling movements of the extremities.

-Very characteristic behavior in behavior: such as frequent smiling, happy appearance, often flapping hands, hyperactivity, attention retention for a short time.

-Speech problems: there is no oral language or there is minimal use of words. Receptive (i.e., understanding) and nonverbal communication skills are greater than verbal ones.

Seizures (epilepsy) that usually begin before 3 years of age. The severity of seizures decreases with age, but they remain throughout adult life.

How much common is?

is a rare neuro-genetic disorder that occurs in one in 15,000 live births or 500,000 people worldwide.

Treatment

Anti-seizure medication to control seizures

· Physical therapy to help with walking and movement problems ·Communication

Alleles are recessive or dominant:

These mutations therefore behave neither as dominant nor as recessive mutations but, rather, show an imprinted mode of inheritance.

References :

https://medlineplus.gov/genetics/condition/angelman-syndrome/

https://cinfasalud.cinfa.com/p/sindrome-de-angelman/

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Julieta Gomez

Overview: Sickle cell anemia is one of a group of inherited disorders known as sickle cell disease. It affects the shape of red blood cells, which carry oxygen to all parts of the body.

Red blood cells are usually round and flexible, so they move easily through blood vessels. In sickle cell anemia, some red blood cells are shaped like sickles or crescent moons. These sickle cells also become rigid and sticky, which can slow or block blood flow.

symptoms: Sickle cell anemia signs usually show up around 6 months of age and vary from person to person. They can include anemia, painful episodes known as pain crises, swollen hands and feet due to blocked blood flow, and potential damage to the spleen, making infections more likely. Not having enough healthy red blood cells can slow down growth in kids and postpone puberty. Sickle cells might also block small blood vessels in the eyes, leading to vision problems.

Treatments: The current approach to treatment is to relieve pain and help prevent complications of the disease. However, newer treatments may cure people of the disease.

How common is it: The condition affects more than 100,000 people in the United States and 20 million people worldwide

why does it occur:People who have sickle cell anemia inherit two faulty hemoglobin genes — hemoglobin S — from each parent, so it is a recessive disease.

reference:

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Sickle cell anemia-Sickle cell anemia - Symptoms & causes - Mayo Clinic

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Learn about the symptoms, causes and treatment of this inherited blood disorder that, in the United States, is more common among Black people.

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Neurofibromatoses are a group of genetic disorders that cause tumors to form on nerve tissue. These tumors can develop anywhere in the nervous system, including the brain, spinal cord and nerves. There are three types of neurofibromatosis: neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2) and schwannomatosis. NF1 is usually diagnosed in childhood, while NF2 and schwannomatosis are usually diagnosed in early adulthood.

NF1 is caused by mutations in the gene that controls production of a protein called neurofibromin (neurofibromin 1). This gene is believed to function as a tumor suppressor. In about 50% of people with NF1, the disorder results from gene mutations that occur for unknown reasons (spontaneous mutation).

Symptoms

There are three types of neurofibromatosis, each with different signs and symptoms.

Neurofibromatosis 1

Neurofibromatosis 1 (NF1) is usually diagnosed during childhood. Signs are often noticeable at birth or shortly afterward and almost always by age 10. Signs and symptoms are often mild to moderate, but can vary in severity.

Signs and symptoms include:

Flat, light brown spots on the skin

Freckling in the armpits or groin area.

Tiny bumps on the iris of the eye

Soft, pea-sized bumps on or under the skin

Bone deformities

Learning disabilities

Neurofibromatosis 2

Neurofibromatosis 2 (NF2) is much less common than NF1. Signs and symptoms of NF2 usually result from the development of benign, slow-growing tumors in both ears (acoustic neuromas), which can cause hearing loss. Also known as vestibular schwannomas, these tumors grow on the nerve that carries sound and balance information from the inner ear to the brain.

Signs and symptoms generally appear during the late teen and early adult years, and can vary in severity. Signs and symptoms can include:

Gradual hearing loss

Ringing in the ears

Poor balance

Headaches

Schwannomatosis

This rare type of neurofibromatosis usually affects people after age 20. Symptoms usually appear between ages 25 and 30. Schwannomatosis causes tumors to develop on the cranial, spinal and peripheral nerves — but rarely on the nerve that carries sound and balance information from the inner ear to the brain. Tumors don't usually grow on both hearing nerves, so people who have schwannomatosis don't experience the same hearing loss as people who have NF2.

Symptoms of schwannomatosis include:

Chronic pain, which can occur anywhere in the body and can be disabling

Numbness or weakness in various parts of the body

Loss of muscle

NF1 is among the most common genetic conditions. It is estimated that as many as 1 in 3,000 people worldwide have an NF1 mutation. About 30% to 50% of people affected by NF1 do not have any family history of the condition.

There isn't a cure for neurofibromatosis, but signs and symptoms can be managed. Generally, the sooner someone is under the care of a doctor trained in treating neurofibromatosis, the better the outcome.

NF is considered an autosomal dominant disorder because the gene is located on one of the 22 chromosome pairs, called autosomes. The gene for NF1 is located on chromosome 17. The gene for NF2 is located on chromosome 22. Children have a 50 percent chance of inheriting the genes that cause NF if the parent has NF.

References: https://www.mayoclinic.org/diseases-conditions/neurofibromatosis/diagnosis-treatment/drc-20350495

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Diagnosis

Your doctor will start with a review of your personal and family medical history and a physical examination.

Your doctor will check your skin for cafe au lait spots, which can help diagnose NF1.

If additional tests are needed to diagnose NF1, NF2 or schwannomatosis, your doctor might recommend:

Eye exam. An eye doctor can detect Lisch nodules, cataracts and visual loss.

Hearing and balance exams. A test that measures hearing (audiometry), a test that uses electrodes to record your eye movements (electronystagmography) and a test that measures the electrical messages that carry sound from the inner ear to the brain (brainstem auditory evoked response) can help assess hearing and balance problems in people who have NF2.

Imaging tests. X-rays, CT scans or MRIs can help identify bone abnormalities, tumors in the brain or spinal cord, and very small tumors. An MRI might be used to diagnose optic gliomas. Imaging tests are also often used to monitor NF2 and schwannomatosis.

Genetic tests. Tests to identify NF1 and NF2 are available and can be done in pregnancy before a baby is born. Ask your doctor about genetic counseling. Genetic tests won't always identify schwannomatosis because other, unknown genes may be involved with the disorder. However, some women choose genetic testing for SMARCB1 and LZTR1 before having children.

For a diagnosis of NF1, you must have at least two signs of the condition. If your child has only one sign and no family history of NF1, your doctor will likely monitor your child for the development of any additional signs. A diagnosis of NF1 is usually made by age 4.

Genetic testing may help establish the diagnosis.

Treatment

There isn't a cure for neurofibromatosis, but signs and symptoms can be managed. Generally, the sooner someone is under the care of a doctor trained in treating neurofibromatosis, the better the outcome.

Monitoring

If your child has NF1, your doctor is likely to recommend yearly age-appropriate checkups to:

Assess your child's skin for new neurofibromas or changes in existing ones

Check for signs of high blood pressure

Evaluate your child's growth and development - including height, weight and head circumference - according to growth charts available for children who have NF1

Check for signs of early puberty

Evaluate your child for any skeletal changes and abnormalities

Assess your child's learning development and progress in school

Obtain a complete eye examination

Contact your doctor promptly if you notice any changes in signs or symptoms between visits. Many complications of NF1 can be treated effectively if therapy starts early.

Medication

Selumetinib (Koselugo) is a treatment for plexiform neurofibroma in children. Clinical trials of similar drugs are currently ongoing for children and adults.

Surgery and other procedures

Your doctor might recommend surgery or other procedures to treat severe symptoms or complications of neurofibromatosis.

Surgery to remove tumors. Symptoms can be relieved by removing all or part of tumors that are compressing nearby tissue or damaging organs. If you have NF2 and have experienced hearing loss, brainstem compression or tumor growth, your doctor might recommend surgery to remove acoustic neuromas that are causing you problems. Complete removal of schwannomas in people with schwannomatosis can ease pain substantially.

Stereotactic radiosurgery. This procedure delivers radiation precisely to your tumor and doesn't require an incision. Stereotactic radiosurgery might be an option to remove acoustic neuromas if you have NF2. Stereotactic radiosurgery can help preserve your hearing.

Auditory brainstem implants and cochlear implants. These devices might help improve your hearing if you have NF2 and hearing loss.

Cancer treatment

Malignant tumors and other cancers associated with neurofibromatosis are treated with standard cancer therapies, such as surgery, chemotherapy and radiation therapy. Early diagnosis and treatment are the most important factors contributing to a good outcome.

Pain medications

Managing pain is an important part of treatment for schwannomatosis. Your doctor might recommend:

Drugs for nerve pain such as gabapentin (Neurontin, Gralise, Horizant) or pregabalin (Lyrica)

Tricyclic antidepressants such as amitriptyline

Serotonin and norepinephrine reuptake inhibitors such as duloxetine (Cymbalta, Drizalma Sprinkle)

Epilepsy medications such as topiramate (Topamax, Qudexy XR, Trokendi XR) or carbamazepine (Carbatrol, Tegretol, others)

Potential future treatments

Researchers are testing gene therapies for NF1. Potential new treatments could include replacing the NF1 gene to restore the function of neurofibromin.

Clinical trials

Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this condition.

Coping and support

Caring for a child with a chronic condition such as neurofibromatosis can be a challenge. But many children with neurofibromatosis grow up to live healthy lives with few, if any, complications.

To help you cope:

Find a primary care doctor you can trust and who can coordinate your child's care with other specialists. The Children's Tumor Foundation has an online tool to help you find a neurofibromatosis specialist in your area.

Join a support group for parents who care for children who have neurofibromatosis, ADHD, special needs or chronic illnesses in general.

Accept help for daily needs such as cooking, cleaning or caring for your other children or simply to take a needed break.

Seek academic support for children who have learning disabilities.

Preparing for your appointment

You may be referred to a doctor who specializes in brain and nervous system conditions (neurologist).

It's a good idea to be well prepared for your appointment. Here's some information to help you get ready and know what to expect from your doctor.

What you can do

Write down a list of concerns, making a note of when you first noticed them.

Bring a complete medical and family history with you, if your doctor doesn't already have it.

Write down key personal information, including any major stresses or recent life changes.

Make a list of all medications, vitamins or supplements that you or your child is taking.

Bring photographs of any family members - living or deceased - who may have had similar signs and symptoms.

Write down questions to ask your doctor.

Your time with your doctor is limited. Preparing a list of questions can help you make the most of your time together. List your questions from most important to least important in case time runs out. For neurofibromatosis, some basic questions to ask your doctor include:

What type of neurofibromatosis do you suspect?

What tests do you recommend?

What treatments are available?

How should the condition be monitored for changes?

In addition to the questions that you've prepared to ask your doctor, don't hesitate to ask other questions that occur to you.

What to expect from your doctor

Your doctor is likely to ask you a number of questions. Being ready to answer them may allow time later to cover other points you want to address. Your doctor may ask:

When did you first notice signs or symptoms? Have they changed over time?

Is there a family history of neurofibromatosis?

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This genetic disorder causes tumors on nerve tissue, but surgery and other therapies can manage pain and other symptoms.

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Hemophilia is an inherited bleeding disorder in which the blood does not clot properly due to low levels of clotting factor VIII or IX. This causes bleeding spontaneously or after injuries or surgeries. The severity varies depending on the amount of factor present, with the likelihood of clotting being lower in cases of lower levels, which can cause serious health problems.

Hemophilia is caused by a mutation in the clotting factor genes on the X chromosome. Men, with only one X chromosome, can develop hemophilia if they inherit the mutation from their mother. Women, with two X chromosomes, can be carriers if they inherit an affected copy, but they usually have fewer symptoms. Female carriers can transmit hemophilia to their children.

Hemophilia can cause:

-Bleeding within the joints that can lead to chronic joint disease and pain Bleeding in the head and sometimes the brain, which can cause long-term problems such as seizures and paralysis Death can occur if the hemorrhage cannot be stopped or if it occurs in a vital organ such as the brain.

There are several different types of hemophilia. The following two are the most common: Hemophilia A (classical hemophilia) This type is caused by a lack or decrease of coagulation factor VIII. Hemophilia B (Christmas disease) This type of hemophilia is caused by a lack or decrease in clotting factor IXCommon signs of hemophilia include: Hemorrhages in the joints. This can cause swelling and joint pain or stiffness; It frequently affects the knees, elbows and ankles. Bleeding under the skin (bruises) or into the muscles and soft tissues, causing blood to pool in the area (hematoma). Bleeding in the mouth and gums, and bleeding that is difficult to stop after a tooth falls out. Bleeding after circumcision (surgery performed on baby boys to remove the skin that covers the tip of the penis, called the foreskin). Bleeding after receiving injections, such as vaccines. Hemorrhage in the head of the newborn after a difficult birth. Blood in the urine or stool. Frequent or difficult to stop nosebleeds.

Hemophilia occurs in 1 in 5,000 baby boys. Hemophilia A is almost four times more common than hemophilia B and about half of affected people have the severe form of the disease. Hemophilia affects people of all racial and ethnic groups.

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why does it happend?:

Sickle cell anemia is caused by a mutation in the gene that codes for hemoglobin, the protein in red blood cells that carries oxygen. This mutation causes the hemoglobin to change shape, from round to crescent or "sickle" shaped.

What are the symptoms:

Some common symptoms of sickle cell anemia include fatigue, shortness of breath, jaundice, fever, and pain. The symptoms can vary depending on how severe the disease is, and they can also come and go. Some people with sickle cell anemia experience acute episodes of severe pain, known as a sickle cell crisis. This pain can be caused by the sickle-shaped cells getting stuck in blood vessels and blocking the flow of blood.

How común is it the world anemia falciforme:

Globally, it's estimated that sickle cell anemia affects around 300,000 babies born each year. In the United States, it's estimated that about 100,000 people have sickle cell anemia.

Are the alleles that cause this desease recessive or dominant?

The alleles that cause sickle cell anemia are recessive. This means that a person needs to inherit two copies of the sickle cell gene, one

from each parent, in order to have the disease.

Sources:

.https://www.mayoclinic.org/es/diseases-conditions/sickle-cell-anemia/symptoms-causes/syc-20355876

.https://www.cdc.gov/ncbddd/spanish/sicklecell/index.html

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What is?

Turner's syndrome is a disease that only affects females and occurs when one or part of the X chromosome (the sex chromosome) is missing. Turner disease can be diagnosed before birth, in infancy or early childhood. Sometimes, in women with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until adolescence or early adulthood. Girls and women with Turner syndrome need several experts for ongoing treatment.

SYMPTOMS

Before birth

Turner syndrome may be suspected before birth from a prenatal ultrasound or a test for free fetal DNA, a method of detecting certain chromosomal abnormalities in the unborn baby by using a sample of the mother's blood. Prenatal ultrasound of a baby with Turner syndrome may show:

A significant accumulation of fluid in the back of the neck or other abnormal fluid accumulations (edema).

-Heart abnormalities

-Abnormal kidneys

At birth or during childhood

-Broad or webbed neck

-Low-set ears

-Wide chest with wide-spaced nipples

-High, narrow palate (roof of the mouth)

-Arms turning out at the elbows

-Narrow, upward pointing fingernails and

toenails

-Swollen hands and feet, especially at birth

-Slightly shorter than average height at birth

-Delayed growth

-Heart defects

-Low hairline at the back of the head

-Receding or small lower jaw

-Short fingers and toes

Adulthood

-Delayed growth

-Significantly shorter adult height than expected for a female family member

-Failure to initiate expected sexual changes during puberty

-Sexual development that "stalls" during the adolescent years

-Early termination of menstrual cycles that is not due to pregnancy

-For most women who have Turner syndrome, inability to become pregnant without fertility treatment

Dominant or Recessive

The mode of transmission is X-linked, it has been described as X-linked recessive in one family, and as dominant in another in which the females had a less severe phenotype.

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Luciana Peñaloza Prieto

Why its does happen?

The DMD gene that codes for dystrophin, a structural muscle protein, is located on the short arm of the related diseases such as Becker Muscular Dystrophy, which is a milder form of dystrophy.

Symptoms

Frequent falls

Difficulty getting up from lying or sitting

Problems running and jumping duck march

Walking on tiptoe

Calves with large muscles

Muscle pain and stiffness

Learning problems

Stunted growth

How common is?

The condition most often affects children because of the way the disease is inherited. Sons of women who are carriers of the disease (women with a defective chromosome, but who do not have symptoms) each have a 50% chance of having the disease, and daughters each have a 50% chance of being carriers.

On very rare occasions, a woman may be affected by the disease. Duchenne muscular dystrophy occurs in approximately 1 in 3,600 males. Because it is an inherited disorder, risks include a family history of Duchenne muscular dystrophy.

It exist a treatment?

Although there is no cure for Duchenne muscular dystrophy (DMD), there are some accepted treatments that can reduce symptoms and improve quality of life.

The comprehensive treatment of Duchenne muscular dystrophy includes the administration of corticosteroids, some side effects of systemically administered corticosteroids are increased risk of osteoporosis, growth inhibition, muscle weakness, weight gain, increased risk of infection, diabetes mellitus, cataracts and slow wound healing process.

Are the alleles that cause this disease recessive or dominant?

Duchenne muscular dystrophy is caused by an X-linked recessive gene. "X-linked" means that the gene that causes the trait or disorder is located on the X chromosome.

References

https://www.duchenne-spain.org/que-es-duchenne/

http://www.scielo.org.co/scielo.php?

https://www.mayoclinic.org/es/diseases-conditions/muscular-dystrophy/symptoms-causes/syc-20375388

https://medlineplus.gov/spanish/ency/article/000705.htm#:~:text=La%20distrofia%20muscular%20de%20Duchenne%20se%20presenta%20en%20aproximadamente%201,la%20distrofia%20muscular%20de%20Duchenne.

https://www.parcdesalutmar.cat/es/dermatologia/consells-practics/corticoides/#:~:text=Otros%20efectos%20secundarios%20de%20los,de%20cicatritzaci%C3%B3n%20de%20las%20heridas.

https://www.mayoclinic.org/es/enfermedades-condiciones/distrofia-muscular/symptoms-causes/syc-20375388

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Sophie gaitan

An inherited condition in which nerve cells in the brain break down over time.

Huntington's disease is a genetic disorder that affects the brain and causes problems with movement, thinking, and behavior. It's caused by a mutation in a gene called HTT. The symptoms include:difficulty concentrating and memory lapses, depression, stumbling and clumsiness,

involuntary jerking or fidgety movements of the limbs and body, mood swings and personality changes, problems swallowing, speaking and breathing,

difficulty moving. There’s currently no cure for huntington’s disease no or any way to stop it getting worse. But treatment and support can help reduce some of the problems caused by the condition.