Childhood Syndromes Flashcards
What is Down’s Syndrome
Trisomy 21 - 47 XX/Y (+21)
What are the typical craniofacial appearance of someone with Down’s syndrome
Round face and flat nasal bridge Up-slanted palpebral fissures Epicanthic folds Brushfield spots on iris (pigmented spots) Small mouth and protruding tongue High arched palate Flat occiput and third fontanelle Abdunant neck skin Low set, small simple ears
What are the other clinical features of someone with down’s syndrome
Short neck Incurved and short fifth finger Wide ‘sandal’ gap between toes 1 and 2 Hypotonia Single palmar crease Broad hands Intellectual disability
What is Edward’s Syndrome?
Trisomy 18 47 XX/Y (+18)
What are the clinical features of Edward’s syndrome?
Micrognathia (small jaw) Low-set ears Rocker bottom feet – twisted feet Overlapping of fingers Medium lifespan 5-15 days with only 10% surviving past 1 year
What is Patau’s Syndrome?
Trisomy 13 47 XX/Y (+13)
What are the clinical features of Patau’s syndrome?
Microcephaly Small eyes Cleft lip/palate Polydactyly Scalp lesions 90% die within the 1st year of life
What is Turner’s Syndrome?
Monosomy X, 45 XO
Can also be as a result of the deletion on the short arm of one of the X chromosomes.
What are the clinical features of Turner’s Syndrome?
Lymphoedema of hand and feet in neonate, which may persist Shield chest and widely spaced nipples Short stature – cardinal feature Neck webbing or thick neck Low posterior hairline Low-set ears Wide carrying angle (cubitus valgus) Cystic hygroma High arched palate Short fourth metacarpal Multiple pigmental naevi
What are the common associated comorbidities for Turner’s Syndrome?
CHD (particularly coarctation and bicuspid aortic valve)
Renal (single horse-shoe shaped kidney)
Hypothyroidism
Ovarian dysgenesis with infertility - primary amenorrhoea
Normal intellectual function in most cases.
What is Fragile X syndrome?
Expansion of the CGG triplet repeat on the FMR1 gene on the X chromosome causing silencing of this gene which is required for normal development.
What are the associated clinical features of fragile X?
Learning disabilities Macrocephaly Long face Long ears Macro-orchidism
What is DiGeorge Syndrome?
22q11.2 deletion
Severe form of chromosome 22q11.2 deletion syndrome
Results in failure to develop 3rd and 4th pharyngeal pouches
What are the clinical features of someone with DiGeorge syndrome?
CATCH-22 Congenital heart disease (interrupted aortic arch, truncus arteriosus and TOF) Abnormal facies Thymus hypoplasia Cleft palate Hypo parathyroid/Hypocalcaemia
What are the features of Noonan syndrome?
Male version of Turner’s as a result of a gene defect on chromosome 12. Has very similar features to Turner’s but also includes pulmonary valve stenosis, ptosis, triangular face, low set ears and coagulation problems (factor XI deficiency). Webbed neck Pectus excavatum Short stature Pulmonary stenosis
What are the features of Pierre-Robin syndrome?
Micrognathia
Posterior displacement of the tongue (may result in upper airway obstruction)
Cleft palate
Not a syndrome, but a sequence – collection of features where one happens because of one that came before. Cleft palate in 50% due to Tongue preventing palate fusing or tongue preventing palate staying fused.
What are the features of prader-willi syndrome?
Hypotonia
Hypogonadism
Obesity
What are the features of william’s syndrome?
Short stature Learning difficulties Friendly, extrovert personality Transient neonatal hypercalcaemia Supravalvular aortic stenosis
What are the features of Cri du chat syndrome
Characteristic cry (hence the name) due to larynx and neurological problems
Feeding difficulties and poor weight gain
Learning difficulties
Microcephaly and micrognathism
Hypertelorism
What are the features of Treacher Collins syndrome?
Micrognathia
Posterior displacement of the tongue (may result in upper airway obstruction)
Cleft palate
(Very similar to Pierre Robinson syndrome)
Treacher-Collins syndrome is autosomal dominant so there is usually a family history of similar problems
What causes Down’s syndrome?
Majority of cases of Down’s syndrome occur as a result of non-disjunction in the mother. A handful can be as a result of translocations and some cases are mosaic. Diagnosis made via karyotyping, but screening can occur during pregnancy to determine risk.
What conditions and abnormalities is Down’s syndrome associated with?
Congenital cardiac disease especially AVSD, VSD and patent ductus Hirschsprung’s Duodenal atresia Hypothyroidism Hearing loss Early onset Alzheimer’s
What is duchenne’s muscular dystrophy?
X-linked mutation in the dystrophin gene. This results in near total loss of dystrophin which is important for holding muscle together and so slowly muscle is replaced by fibrous and adipose tissue.
How does DMD present?
Boys aged 1-6
Waddling and clumsy gait
Gower’s manoeuvre (on standing uses hands to climb up his legs)
Carriers sometimes have manifestations
How should suspected DMD be investigated?
Measure creatine kinase in all boys not walking by 1.5 years
Muscle biopsy
How is DMD managed?
Wheelchair will be needed by age 9-12 but aim to preserve walking as long as possible
Prednisolone slows decline
Genetic treatment may be available in the future
Mechanical ventilation prolongs life span
