Genetic conditions Flashcards
What is Klinefelter syndrome?
Where a male has an additional X chromosome making them 47XXY.
What are the features of Klinefelter syndrome?
Often normal male until puberty. At/after puberty
- taller height
- wider hips
- gynaecomastia
- weaker muscles
- small testicles
- reduced libido
- infertility
- subtle learning difficulties
How is Klinefelter syndrome managed?
- testosterone injections may improve symptoms
- IVF can help with infertility
- breast reduction for cosmetic reasons
Other things that may be useful - speech and language therapy
- occupational therapy
- physiotherapy
- educational support
What is Turner syndrome?
Where a female has a single X chromosome - making them 45XO
What are the features of Turner syndrome?
- short stature
- webbed neck
- downwards sloping eyes with ptosis
- high arch palate
- broad chest with widely spaced nipples
- cubitus valgus (where angle at the elbow is exaggerated)
- underdeveloped ovaries w. reduced function
- late or incomplete puberty
- sub / infertility
What other conditions are associated with Turner syndrome?
- recurrent otitis media
- recurrent UTIs
- Coarctation of the aorta
- hypothyroidism
- hypertension
- obesity
- diabetes
- osteoporosis
- various specific learning disabilities
How is Turner syndrome managed?
- growth hormone therapy can help prevent short stature
- oestrogen and progesterone replacement can help development of female secondary sex characteristics, regulate menstruation and prevent osteoporosis
- fertility treatment
- regular monitoring for associated conditions and treat these appropriately
What is Prada-Willi syndrome?
A genetic condition caused by the loss of functional genes on the proximal arm of chromosome 15 inherited from the father ( can be due to deletion of this portion or when both copies of chromosome 15 are inherited from the mother )
What are the features of Prada-Willi syndrome?
- constant insatiable hunger (hyperphagia) - leading to obesity
- hypotonia and poor feeding in infancy
- mild to moderate learning disability
- short stature
- hypogonadism
- dysmorphic features (almond shaped eyes, downturned mouth, thin upper lip)
How is Prada-Willi syndrome managed?
- dietician - often involves limiting access to food
- give growth hormone to improve muscle development and body composition
- MDT support - educational, psychological, social, physio etc.
What is Angelman syndrome?
A genetic condition caused by loss of function of the UBE3A gene - specifically the copy inherited from the mother
What are the features of Angelman syndrome?
- delayed development and learning disability
- severe speech problems / delay
- ataxia
- fascination with water
- happy demeanour
- hand flapping
- epilepsy
- ADHD
- dysmorphic features - microcephaly, fair skin, light hair and blue eyes, wide mouth with widely spaced teeth
How is Angelman syndrome managed?
- MDT approach
- parental education
- social support
- educational support
- physio
- psychology / CAMHS
- antiepileptics
What is Williams syndrome?
A deletion of genetic material on one copy of chromosome 7 (usually a random deletion around conception rather than being inherited from a parent)
What are the features of Williams syndrome?
- broad forehead
- starburst eye pattern on iris
- dysmorphic features - flattened nasal bridge, long philtrum, wide mouth w. widely spaced teeth
- very sociable trusting personality
- mild learning disability
