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Osteogenesis imperfecta is a genetic or heritable disease in which bones fracture (break) easily, often with no obvious cause or minimal injury. OI is also known as brittle bone disease, and the symptoms can range from mild with only a few fractures to severe with many medical complications. It affects the body ability to make collagen properly due to abnormalities in the genes

Effects on health and development

Bones likely to break from mild to moderate trauma, with most broken bones occurring before puberty.

No change or only slight changes to stature with aging.

Loose joints and muscle weakness.

Blue, purple, or gray tint to sclera (whites of the eyes).

Triangular face.

Curved spine with potential for compression of the vertebrae (spine bones) with aging.

Mild or no bone deformity.

Possible changes to the strength and color of teeth.

Possible hearing loss.

Normal collagen structure, but less than the normal amount is produced.

Impact on daily life

Management and daily activities: Individuals with OI must often adapt their routines to minimize the risk of fractures, including modifying their homes and carefully choosing physical activities.

Physical challenges: Symptoms like frequent fractures, bone deformities (e.g., scoliosis), muscle weakness, and chronic pain can significantly affect daily life.

Tiredness: Many people with OI experience fatigue, which can further restrict activities.

Medical appointments: Managing the condition often involves frequent medical appointments and responding to fractures, which can be time-consuming.

Life expectancy

Normal or near-normal: People with mild to moderate types, such as Type I and Type IV, can often have a normal or near-normal lifespan.

Shortened life expectancy: Severe forms of the disease, such as Type III, may lead to a shortened life expectancy.

Fatal outcomes: The most severe forms, like Type II, are often fatal during infancy due to complications like respiratory failure or intracranial bleeding from skull fractures.

Potential complications and mortality

Respiratory issues: Respiratory failure is a frequent cause of death for those with more severe forms of the condition.

Other diseases: People with OI may have an increased risk of dying from respiratory and gastrointestinal diseases, as well as from trauma.

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Phenylketonuria is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body.

Without the enzyme necessary to break down phenylalanine, a dangerous buildup can develop.

When a person with PKU eats foods that contain protein or eats aspartame, an artificial sweetener. This can eventually lead to serious health problems.

People with PKU need to follow a diet that limits phenylalanine, which is found mostly in foods that contain protein

There is no cure for PKU

Signs and symptoms of untreated PKU can be mild or severe and may include:

A musty odor in the breath, skin or urine, caused by too much phenylalanine in the body

Nervous system (neurological) problems that may include seizures

Skin rashes, such as eczema

Lighter skin, hair and eye color than family members, because phenylalanine can't transform into melanin — the pigment responsible for hair and skin tone

Unusually small head size (microcephaly)

Hyperactivity

Intellectual disability

Delayed development

Behavioral, emotional and social problems

Mental health disorders

How it can be inherited

For a child to inherit PKU, both the mother and father must have and pass on the changed gene. This pattern of inheritance is called autosomal recessive.

It's possible for a parent to be a carrier — to have the changed gene that causes PKU, but not have the disease. If only one parent has the changed gene, there's no risk of passing PKU to a child, but it's possible for the child to be a carrier.

Most often, PKU is passed to children by two parents who are both carriers of the changed gene, but don't know it.

outcome).

PKU is an autosomal recessive condition.

What does that mean?

people that have PKU have two recessive genes for the disorder.

In scientific terms they are homozygous recessive for the PKU trait. The recessive gene which characterizes PKU is inherited from both parents.

If neither of a PKU child's parents have the disorder themselves, they are carriers of the gene, or heterozygous for the condition.

Heterozygous is the biological term for a person that has one dominant gene for a trait and one recessive gene. In individuals that are heterozygous for PKU, the dominant gene completely masks the recessive one and the person displays no characteristics of the disorder.

How it impacts everyday life

Keep a low protein diet and if not treated leads to significant intellectual and neurological problems.

Intellectual disability:

Untreated PKU can lead to severe intellectual disability, but this is preventable with early diagnosis and treatment

Neurological effects

Seizures: Seizures are a neurological manifestation of elevated phenylalanine levels in the brain.

Motor disorders: Neurological problems such as tremors, spasticity, and other involuntary movements can occur.

Myelination: High phenylalanine levels can lead to altered brain myelination.

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Extra X Chromosome found in males with Klenfelter's Syndrome.

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Klenfelter's Syndrome, Feat. The Extra X

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Klenfelter's Syndrome, Feat. The Extra X

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|Description|

Klenfelter's Syndrome occurs when males are born with an extra X chromosome, meaning they have XXY instead of the usual XY. It is not an inherited conditions as it occurs randomly when either egg or sperm are carrying an extra X Chromosome.

|Effects on Health & Development|

Infants & Toddlers:

Tend to have weaker muscles and are very flexible, development can also be delayed.

Childhood:

Tend to have problems with reading, writing, paying attention and are more likely to show shyness and low confidence. Dyslexia and dyspraxia, low energy levels as well as difficulties in expressing their feelings are also common.

Teenage Years/Adolescence:

Tend to grow taller than expected for their family with longer arms and legs, broader hips, poor muscle tone and slower than usual muscle growth is attributed to the extra X chromosome. Along with this they have reduced facial and body hair that starts to grow later than usual, smaller testes and enlarged breast.

Adulthood:

Tend to have fertility problems with an inability to have children being common, lower sex drive, erection problems and smaller testes remain from adolescence.

Many men with Klenfelter's Syndrome live unaltered lives and may not be affected by their condition at all in everyday life, however some have a slightly increased chance of developing:

•Type 2 Diabetes

•Weakened and Fragile Bones(Osteoporosis)

•Cardiovascular Diseases

•Autoimmune disorders such as Lupus

•Under Active Thyroid Gland (Hypothyroidism)

•Anxiety And Depressive Disorders

•Learning Disabilities

•Male Breast Cancer (Rare but can occur)

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Lucy,Loah and zola

Cystic fibrosis (CF) is inherited in an autosomal recessive manner, meaning that both parents must carry a mutated copy of the CFTR gene for their child to be affected. If both parents are carriers, each of their children has a 25% chance of having cystic fibrosis, a 50% chance of being a carrier, and a 25% chance of not having the condition or being a carrier

Cystic fibrosis (CF) research identifies signs and symptoms related to thick, sticky mucus affecting the lungs and digestive system. Lung symptoms include a persistent cough with mucus, wheezing, shortness of breath, and frequent sinus and chest infections.

Cystic fibrosis (CF) affects everyday life by causing thick mucus to build up in the lungs and digestive system, leading to chronic respiratory infections, coughing, and shortness of breath

Physical (P) effects

Lungs: Frequent lung infections, chronic coughing, difficulty breathing, and in severe cases, lung collapse.

Intellectual (I) effects

While CF is not a primary cause of intellectual disability, the chronic illness can impact a child's ability to participate in school and developmental tasks.

Emotional (E) effects

Mental health: Higher rates of depression and anxiety in both individuals with CF and their caregivers.

Social (S) effects

Physical limitations: Difficulty participating in physical activities and sports, which can affect social integration.

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Alex, Brooke, Latoya

Huntington’ Disease is inherited in an autosomal dominant pattern, meaning a child has a 50% chance of inheriting the faulty gene if one parent has it.

Signs and symptoms of Huntington’s Disease

•Uncontrollable Movements eg. jerking, twitching or fidgeting

•Poor condition and balance

•Mood changes eg irritability, depression and anxiety

• Trouble concentrating and remembering

• Slurred speech or difficulty swallowing

• Personality or behaviour changes

• Symptoms usually begin in adulthood and worsen over time

The condition can affect the everyday life of the sufferer by making daily tasks like walking, talking, and eating harder as it affects movement and coordination. It can also cause mood and memory problems making it difficult to work, study or care for oneself.

The condition will affect physical development by weakening movement and coordination and intellectual development by causing memory and thinking problems. It also impacts emotional and social development leading to mood swings and difficulties in maintaining relationships.

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Matthew and Tristan

Muscular dystrophy is a group of inherited genetic conditions that cause progressive muscle weakness and wasting of muscles over time. It can be passed down by one or both parents. There are over 60 different types of it including DMD and Becker muscular dystrophy.

Physical delays such as delayed gross motor skills like sitting and walking, and fine motor skills challenges. Cognitive impacts include developmental delays in speech and language. It can progress to eventually leading to having to use mobility needs. It can affect other parts of body like lungs, digestive system and heart. As it worsens moving arms and shoulders etc tends to be harder.

Some treatments can include physical and occupational therapies to maintain functions, medications like corticosteroids to slow progression, and mobility aids like wheelchairs.