Dysmorphic child Flashcards
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.
Williams syndrome and life
Can live a long life with the right treatment and support
What causes cri du chat syndrome
Chromosome 5q deletion
Physical features of cri du chat syndrome
Characteristic cry - larynx and neuro problems
Feeding difficulties and poor weight gain
Learning difficulties
Microcephaly and micrognathism
hypertelorism (abnormally large space between the eyes)
Life with cri du chat syndrome
1 in 10 severely affected and ->
What is a malformation
Morphological abnormality present at birth and of prenatal origin - can involve a single organ or body part and arises becuase of abnormal development programme -> a malformation a structural birth defect
What is a syndrome
Set of associated symptoms w known or assumed single aetiology
Major malformations aetiology
2-3% newborn children
Normal variatns in population
2-3 toe syndactyly
Preauricular sinus
Hypoplastic or absent ear lobes
What are minor anomalies
eg distal pharynx abnormality
head/scalp defect
Ears small, posteriorly rotated
Skin - scaral dimples, preauricular tags,
Supernumerary nipples, small hernias
Clinodactlyly etc
Doesnt cause significant disease, functional abnormality or cosmetic problems - NO IMPACT ON LIFE EXPECTANCY OR QOL
<4%
Major anomalies what are they adn examples
Have effect of life expecatncy/WOL
Casue sifnificant clinical, functonal or csometic problems
eg ectrodactyly, spina bifida
Pathogeneisis classifications
Malformation - anatomical defect arising as abnormal developmental process - primary defect eg cleft lip
Deformation - distortion physical force of an otherwise normal structure (secondary)
Dysplasias
Disruptops
Examples of deformation
Amniotic bands
Intrauterine cnstraint eg polyhydraminos or malformed uterus
What is a disruption
Destruction of tissue prev normal - secondary effect
eg poland sequence - interruption blood supply to limb or msucle
What is dysplasia
Abnormal cellular organisation within tissue -> structural changes/abnormal growth of a tissue
Primmary defect
eg cartliage hair hypoplasia
Achondroplasia - dwarfism
Syndrome vs sequence
Syndrome = pattern of anomalies known or thought to have same cause
Sequence = morphologic anomalies resulting from single primary malormation g potter sequence, pierre robin
What is an association
Pattern of at least 2 anomalies occur togehter more oftne than expected but no cause identified
What is VACTERL
Association between ->
Vertebral anomalies
Anal atresia
Cardiovascular anomalies
Tracheosophageka fistula
Eosophageal atreaia
Renal and/or radial anomaloes
Limb defects
Cleft palate syndrome
Pierre robin sequence - isolated
Digeorge syndrome
Stickler syndrome
What is SHH gene
Sonic hedgehog gene
Massive variaty in phenotype
Often single central incisor
Narrowly spaced eyes
Impacts midline development
Nasal voice signifiance
Venopharyngeal insufficiency - pre cleft palate
