Genetics - Angelman & William Syndrome Flashcards
What is Angelman syndrome?
Loss of function of UBE3A gene from the mother
What causes Angelman syndrome?
Deletion on chromosome 15
Specific gene mutation
Two copies of chromosome 15 from father, no maternal copy
What are the features of Angelman syndrome
Fascination with water
Happy demeanour
Delayed development and learning disability
Severe delay or absence of speech development
Ataxia
Inappropriate laughter
Hand flapping
Abnormal sleep patterns
Epilepsy
ADHD
Microcephaly
Fair skin, light hair and blue eyes
Wide mouth with widely spaced teeth
What are the key features to identify Angelman syndrome?
Fascination with water
Happy demeanour
Widely spaced teeth
How is Angelman syndrome managed?
MDT approach to manage individual problems and support parents/carers
- Parental education
- Social services and support
- Educational support
- Physiotherapy
- Occupational therapy
- Psychology
- CAMHS
- Anti-epileptic medication when needed
What causes William syndrome?
Deletion of genetic material on one copy of chromosome 7
Person only has single copy of genes on deleted region
What causes William syndrome?
Random deletion
What are the features of William syndrome?
Starburst eyes (star-like pattern on iris)
Broad forehead
Flattened nasal bridge
Long philtrum
Wide mouth with widely spaced teeth
Small chin
Very sociable, trusting personality
Mild learning disability
What conditions are associated with William syndrome?
Supravalvular aortic stenosis
ADHD
Hypertension
Hypercalcaemia
What are some key presenting features of William syndrome?
Very sociable
Starburst eyes
Wide mouth with widely spaced teeth
Supravalvular aortic stenosis
Hypercalcaemia
How is William syndrome managed?
MDT approach to manage individual problems
Support patient and family
Echocardiograms
BP monitoring for aortic stenosis and hypertension
Low calcium diet to control hypercalcaemia
Avoid calcium and vitamin D supplements
