🧬 Noonan Syndrome
Noonan syndrome is a genetic condition present from conception.
It affects how the body grows and develops.
🧬 Cause
Noonan syndrome is caused by changes in genes involved in the RAS-MAPK signalling pathway (RASopathy).
Common genes:
- PTPN11 (most common)
- SOS1
- RAF1
- KRAS
🎲 Inheritance
- Autosomal dominant (one altered gene is enough)
- Can be inherited or occur randomly (de novo)
🕒 When It Happens
- Before birth (from conception)
- May be detected during pregnancy or after birth
- Often diagnosed in early childhood
👶 Possible Early Signs
- Heart defects
- Feeding difficulties
- Excess fluid (seen on scans)
- Distinct facial features
🧠 Features
May include:
- Wide-set eyes
- Droopy eyelids
- Short stature
- Developmental delay
- Learning difficulties (mild to moderate)
- Heart conditions (e.g. pulmonary stenosis)
💡 Key Message
- Lifelong condition
- Very variable between individuals
- Support improves outcomes
🧬 Marfan Syndrome
Marfan syndrome is a genetic connective tissue disorder affecting strength and elasticity in the body.
🧬 Cause
- Mutation in FBN1 gene (chromosome 15)
- Affects fibrillin-1 protein
- Weakens connective tissue
🎲 Inheritance
- Autosomal dominant
- 75% inherited
- 25% new mutation
- 50% risk if one parent is affected
🕒 When It Happens
- Present from conception
- Symptoms may become more obvious with growth
🧠 Body Systems Affected
- Heart and blood vessels
- Eyes
- Bones and joints
⚠️ Key Medical Risk
- Aortic enlargement
- Risk of aortic dissection (serious complication)
🤰 Pregnancy Considerations
Before pregnancy:
- Heart assessment
- Genetic counselling
During pregnancy:
- Regular heart monitoring
- Increased cardiovascular strain
Birth:
- Vaginal birth or C-section depending on risk
After birth:
- Highest risk period for complications
- Continued monitoring needed
💡 Key Message
- Lifelong condition
- Affects connective tissue strength
- Monitoring greatly improves outcomes
🧠 Carpal Tunnel Syndrome
Carpal tunnel syndrome is caused by pressure on a nerve in the wrist.
🧠 Symptoms
- Tingling or numbness in hand
- Weak grip
- Pain in wrist or fingers
🧬 Polycystic Ovary Syndrome (PCOS)
PCOS is a hormonal condition affecting people with ovaries.
🧠 Effects
- Irregular periods
- Fertility difficulties
- Weight changes
- Hormonal imbalance
🧬 Irritable Bowel Syndrome (IBS)
IBS is a long-term condition affecting how the bowel works.
🧠 Symptoms
- Abdominal pain
- Bloating
- Diarrhoea and/or constipation
- Changes in bowel habits
💡 Key Understanding
- IBS is a functional condition (not structural damage)
- Symptoms vary between individuals
- Can be managed with lifestyle and medical support
🧬 COMMON UNDERSTANDING ACROSS ALL CONDITIONS
💡 Key Message
All conditions:
- Can be genetic, hormonal, neurological, or functional
- Start before or during life development
- Affect people differently
- Are NOT the person’s identity
💚 Support May Include
- Medical monitoring
- Medication
- Therapy (physio, OT, psychological support)
- Lifestyle changes
- Education or workplace adjustments
🌟 Strengths to Recognise
People may still have:
- Independence
- Intelligence
- Personality strengths
- Coping skills
- Adaptability
🌍 FINAL MESSAGE
💚 Every condition is different
💚 Every person is unique
💚 Support improves quality of life
💚 Understanding reduces stigma
💚 Inclusion matters
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