Congenital Syndromes Flashcards
Down's syndrome William's syndrome Fragile X syndrome Duchenne's muscular dystrophy
What is muscular dystrophy?
When the muscles gradually break down and get progressively weaker over time.
What is the most common form of muscular dystrophy?
Duchennes muscular dystrophy.
What causes duchesses muscular dystrophy?
Mutations that cause no expression of dystrophy ( a protein involved in muscle contraction).
What type of inheritance is duchenn’s muscular dystrophy?
X linked recessive inheritance.
Majority of affected people are males, females are carriers.
How does duchenns muscular dystrophy present?
Muscle wasting and weakness in early childhood
most are wheelchair bound before puberty
most die in their early twenties from respiratory failure
what are the signs of duchenns muscular dystrophy?
muscles appear bulky (replaced by fat)
child slips through fingers when being picked up (loose shoulder muscles)
Gowers manœuvre positive.
What is towers manoeuvre?
When child walks their hands up their thighs to stand - a sign of proximal muscle wasting.
how is duchenns muscular dystrophy diagnosed?
A muscle biopsy
What are the complications of duchenns muscular dystrophy?
Respiratory failure
dilated cardiomyopathy
What causes downs syndrome?
having 3 copies of chromosome 21.
Trisomy 21.
What are the dysmorphic features associated with downs syndrome?
Hypotonia Small head flat back short neck short stature flattened face and nose prominent epicanthic folds single palmar crease upward sloping palpable issues
What are the complications of downs syndrome?
learning disabilities deafness otitis media hypothyroidism cardiac defects ASD VSD patent ductus arterioles atlantoaxial instability leukaemia dementia
What is fragile X syndrome?
A genetic disease caused by a repeat in FMR1 gene
What is fragile X syndrome the most common cause of?
Most common inherited cause of autism.
What is fragile X syndrome the most common cause of?
Most common inherited cause of autism.
What is the signs of fragile X syndrome?
Long face extra large testicles large jaw and ears social anxiety autistic spectrum features (speech delay, poor eye contact, social anxiety, copying speech).
What are fragile X syndrome people at risk of?
mitral valve prolapse
epilepsy
What is Williams syndrome?
When part of chromosome 7 is deleted
This causes the elastin gene to be missing
What causes Williams syndrome?
mostly idiopathic
Can be autosomal dominant (so people with Williams syndrome will have a 50% chance of passing it on to their children).
What are the symptoms of Williams syndrome?
connective tissue abnormalities: broad forehead periorbital puffiness short upturned nose long medial cleft full lips flat nasal bridge wide mouth
What are the psychological traits of Williams syndrome?
cocktail party personality cognitive impairment weak visual abilities anxiety phobias OCD developmental delay
What are the cardiothoracic complications of Williams syndrome?
aortic and pulmonary stenosis.
What is the main symptom of Williams syndrome?
increased sensitivity to vitamin D - causing more calcium absorbed and hypercalcaemia - irritability, loss of appetite, vomiting, kidney stones.
What is th management of Williams syndrome?
treat congenital heart defects
treat hypertension
vitamin D and calcium restricted diet.
