Paediatric Syndromes Flashcards
What are the key features of Patau Syndrome?
Trisomy 13 Microcephaly Small eyes Cleft lip/palate Polydactyly Scalp lesions Small penis or enlarged clitoris
What conditions can Patau Syndrome increase the risk of?
Exomphalos (omphalocoele)
Abnormal cysts in kidneys
Heart defects- ASD, VSD, PDA
What are the key features of Edwards Syndrome?
Trisomy 18 Micrognathia (small jaw) Low set eats Rockerbottom feet Overlapping of fingers Undescended testes
What conditions are associated with Edward’s Syndrome?
VSD, PDA and Pulmonary artery stenosis
Omphalocoele
Horseshoe kidneys or polycystic kidneys
What are the key features of Fragile X syndrome?#
X-linked dominant
Macrocephaly Long face large ears Learning disability Macro-orchidism
What are the key features of Noonan Syndrome?
Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis
What are the key features of Pierre Robin Syndrome?
Micrognathia
Posterior displacement of tongue- can lead to upper airway obstruction
Cleft palate
What are the key features of Prader Willi Syndrome?
Chromosome 15
Hypotonia
Learning difficulties
Behavioural problems
Obesity
What are the key features of William’s Syndrome?
De novo
Learning difficulties friendly extrovert personality Short stature Transient neonatal hypocalcaemia Supravavlular aortic stenosis
What are key features of Cru di Chat Syndrome?
Characteristic cry due to laryngeal and neurological problems
Feeding difficulties and poor weight gain
Learning difficulties
Microcephaly and Micrognathia
What is Retts Syndrome
De novo genetic disorder in females
Causes developmental regression in language and motor domains
What are the key features of Angleman Syndrome?
Chromosome 15
Microcephaly Developmental delay Learning difficulties Ataxia Speech impairment Seizures
What are key features of Achondroplasia?
Autosomal Dominant Disorder
Short stature Macrocephaly Frontal Bossing Lumbar lordosis Short and broad hands Depression of nasal bridge
What is PKU?
Phenylketonuria
Due to deficiency in phenylalanine hydroxylase which causes accumulation of phenylalanine
Ultimately converted to phenylketones that are present in urine
What are the symptoms and how can it be prevented?
If left untreated will present at 6-12 months with gross developmental delay
If treated within first 3 weeks of life then no symptoms
- diet low in meat, cheese, fish, beer and flour
- basically low in phenylalanine and tyramine
Regular monitoring of phenylalanine levels
