Dysmorphic child Flashcards
(44 cards)
What is trisomy 13
Patau syndrome
What are the features of pataus syndrome
Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions
What is mosaic inheritance
Inherit extra copy chromosome/general mutation but mutation only present in some cells
What are the complications with pataus syndrome
70% miscarriage/stillbirht
80% - heart issues
60% - cleft lip and/or palate
60% - delayed brain development
50% - seizures
50% -hearing loss
50% - joint contractures (shortening of muscle tissue that can cause a deformity)
50% - eye issues or an absent eye
Full form pataus is life limiting - most die in 1 week, 1 in 10 live to 5 yars
What is trisomy 18
Edwards syndrome
Featires of edwards syndrome
Micrognathia
Low set ears
Rocker bottom feet
Overlapping fingers
Edwards syndrome and life
Life limiting
Most babies die within one week of birth
13/100 live past 1
Fragile X physical features
Learning difficulties
Macrocephaly
Long face
Large ears
Macro-orchidism
Strabismus
Double jointed fingers
Hypotonia
Fragile X can cause
Developmental delays.
Intellectual disabilities.
Learning disabilities.
Anxiety.
Attention-deficit/hyperactivity disorder.
Autism spectrum disorder.
Cause of fragile X syndrome
FMR1 gene
X-linked dominant pattern - more common and severe in men
Carriers of fragile X are at risk of
Menopause that starts before age 40.
Dementia.
High blood pressure.
Depression.
Anxiety.
Migraines.
Hypothyroidism.
Chronic pain.
Sleep apnea.
Complications of fragile X
Seizures.
Sleep issues. According to a different study, 4 in 10 people with fragile X and autism spectrum disorder had sleeping problems. This is compared to 3 in 10 people who have only fragile X.
Aggressiveness or irritability. People with fragile X syndrome in addition to autism spectrum disorder are more likely to be aggressive.
Self-injury behaviors.
Obesity.
When is fragile X diagnosed
35-42 months
May notice a difference from 12 months
Fragile X syndrome and life
Not life limiting - no life threatening comlications
1 in 10 people w fragile X may live independently
Physcial features of noonasns
Webbed neck
Short stature
Pulmonary stenosis
Pectus excavatum
Can be mild to life threatening
Pierre robin syndrome physical features
Micrognathia
Posterior displacement of tongue - upper AW obstruction
Cleft palate
What is importnat in pierre robin syndrome management
Assess need for immediate AW intervention after delivery
Pierre robin complications
Desaturation - monitor O2 sats
Difficulty feeding
Aspiration
cerebral impairment, pulmonary hypertension, cor pulmonale, and failure to thrive
Treat with surgery
Normal life expectancy if treat complciations
Difference between treacher collins and pierre-robin syndrome
Treacher collins is autosomal dominant - usually some sort of Family history
Pierre robin is norally spontaneous
Prader willi syndrome physical features
Hypotonia
Hypogonadism
Obesity
Williams syndrome physical features
Short stature
Learning difficulties
Friendly, extrovert personality
Transient neonatal hypercalcemia
Supravalvular aortic stenosis
Cause of prader willi syndrome
Chromosome 15 mutations
Other features of prader willi syndrome
Increased appetite
Learning disability
type 2 diabetes
heart failure
breathing difficulties
What can williams syndrome be associated with
heart (cardiac) defects, abnormally increased levels of calcium in the blood during infancy (infantile hypercalcemia), musculoskeletal defects, and/or other abnormalities.
