Congenital abnormalities Flashcards
What are some features of Down’ syndrome?
- Hypotonia
- Brachycephaly
- Upwards loping palpebral fissures
- Prominent eipcantral folds
- Short neck with excess skin
- Short stature
- Flat facial profile
- Brushfield spots in eye
- Simian crease
What conditions/complications is Down’s associated with?
- Learning disability
- Recurrent otitis media
- Deafness (conductive hearing loss from recurrent glue ear)
- Visual problems: myopia, strabismus, cataracts
- Hypothyroidism
- Cardiac malformation: ASD, VSD, tetralogy of Fallot
- Atlantoaxial instability
- Leukaemia (ALL) in children
- Dementia in adults
When does Klinefelter’s syndrome occur?
- When males have an extra X chromosome (e.g. 47XXY)
- Can have more than 1 extra X (e.g. 48XXXY) with more severe presentation
What are the features of ?Klinefelter’s syndrome?
- Patient’s normal until puberty
- Taller height
- Wider hips
- Gynaecomastia
- Reduced libido
- Infertility
- Smaller testicles
- Weaker muscles
- Narrow shoulders
- Shyness
- Subtle learning difficulties (particularly speech and language)
- Poor beard growth
- Long arms and legs
- No frontal baldness
- Few chest hairs
- Female pattern of pubic hair
What is the prognosis of Klinefelter’s syndrome?
- Life expectancy close to normal
- Slightly increased risk of breast cancer, osteoporosis, diabetes, anxiety and depression
When does Turner’s syndrome occur?
When female’s lack an X chromosome (i.e. 45XO)
What are the features of Turner’s syndrome?
- Classic exam triad of short stature, webbed neck, broad chest with widely spaced nipples
- High arched palate
- Downwards sloping eyes with ptosis
- Cubitus valgus
- Underdeveloped ovaries with impaired function (mos tare infertile)
- Late or incomplete puberty
What conditions are associated with Turner’s syndrome?
- Recurrent otitis media
- Recurrent UTI
- Coarctation of aorta
- Hypothyroidism
- Hypertension
- Obesity
- Diabetes
- Osteoporosis
- Various learning disabilities
What is the prognosis for Turner’s syndrome?
- Life expectancy close to normal
- Patients need to be monitored for associated complications
What is Noonan syndrome?
- A genetic condition caused by mutation in a number of genes
- Majority of cases are autosomal dominant
What are the features of Noonan syndrome?
- Short stature
- Broad forehead
- Webbed neck
- Downward sloping eyes with ptosis
- Hypertelorism (large distance between eyes)
- Prominent nasolabial folds
- Low set, widely spaced ears
What conditions are associated with Noonan syndrome?
- CHD (particularly palm valve stenosis, hypertrophic cardiomyopathy and ASD)
- Cryptorchidism (may cause infertility; fertility normal in females)
- Learning disability
- Bleeding disorders
- Lymphoedema
- Increased risk of leukaemia and neuroblastoma
What is Marfans syndrome?
- An autosomal dominant condition affecting the fibrillar gene
- Symptoms are a result of abnormal connective tissue
What are the features of Marfan’s syndrome?
- Tall stature
- Long neck
- Long limbs
- Arachnodactyly
- High arched palate
- Pectus cavanus or excavatum
- Hypermobility of joints
- Downward sloping palpebral fissures
What are the 2 tests for arachnodactyly?
- Thumb crossing edge of palm
- Overlap of fingers and thumb round wrist
What conditions are associated with Marfan’s?
- Dislocation of eye lens
- Dislocation of joints
- Scoliosis
- Pneumothorax
- GORD
- Aortic valve prolapse (with regurg)
- Mitral valve prolapse (with regug)
- Aortic aneurysms
What monitoring to Marfan sufferers require?
Yearly echocardiograms and ophthalmology review
Mutation in which gene causes fragile X-syndrome?
- FMR 1 gene
- Fragile X mental retardation 1 gene
What is the inheritance pattern of fragile X?
- X-linked
- Unclear as to whether dominant or recessive
- Males always affected, females can vary
What are the features of fragile X syndrome?
- Delayed speech and language development
- Intellectual disability
- Long narrow face
- Large ears
- Large testicles after puberty
- Hypermobile joints (particularly hands)
- ADHD
- Autism
- Seizures
What is the prognosis of fragile X syndrome?
Life expectancy close to normal
What causes Prader-Willi?
Loss of functional genes on long arm of chromosome 15
What are the features of Prader-Willi?
- Constant insatiable hunger
- Hypotonia as a child
- Mild-moderate learning disability
- Hypogonadism
- Fairer soft skin that is prone to bruising
- MH problems, particularly anxiety
- Dysmorphic features
- Narrow forehead
- Almond shaped eyes
- Strabismus
- Thin upper lip
- Downturned mouth
What causes Duchenne muscular dystrophy?
Mutation in the dystrophin gene
What is the inheritance pattern of DMD?
- X-linked recessive
- Boys always affected
What are the features of Duchenne muscular dystrophy?
- Progressive proximal muscle weakness
- Muscle weakness goes on to affect all muscles
- Calf pseudohypertrophy
- Gower’s sign
- 30% have intellectual impairment
- Usual presentation is boys between 3-5
What are the investigations for DMD?
- Raised creatinine kinase
- Genetic testing (has replaced muscle biopsy)
What is the prognosis for DMD?
- Most children can’t walk by 12
- Patients are wheelchair bound by teens
- Life expectancy is 25-35
- Associated with dilated cardiomyopathy
What is cystic fibrosis?
- Autosomal recessive disorder causing increased viscosity of secretions (e.g. lungs and pancreas)
- Caused by mutation in CFTR gene
What are the features of cystic fibrosis?
-Neonatal period (around 20%): meconium ileus, less commonly prolonged jaundice
recurrent chest infections (40%)
- Malabsorption (30%): steatorrhoea, failure to thrive
- Other features (10%): liver disease
What conditions are associated with CF?
- Short stature
- Diabetes mellitus
- Delayed puberty
- Rectal prolapse (due to bulky stools)
-N asal polyps - Male infertility
- Female subfertility
What organisms may colonise in CF?
- Staphylococcus aureus
- Pseudomonas aeruginosa
- Burkholderia cepacia*
- Aspergillus
How is CF diagnosed?
- Cystic fibrosis sweat test
- CF patients have abnormally high sweat chloride
- CF indicated by > 60 mEq/l
