Childhood syndromes Flashcards
Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions
Patau syndrome (trisomy 13)
Micrognathia
Low-set ears
Rocker bottom feet
Overlapping of fingers
Edward’s syndrome (trisomy 18)
Learning difficulties
Macrocephaly
Long face
Large ears
Macro-orchidism
Fragile X
Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis
Noonan syndrome
Micrognathia
Posterior displacement of the tongue (may result in upper airway obstruction)
Cleft palate
Pierre-Robin syndrome*
*this condition has many similarities with Treacher-Collins syndrome. One of the key differences is that Treacher-Collins syndrome is autosomal dominant so there is usually a family history of similar problems
Hypotonia
Hypogonadism
Obesity
Prader-Willi syndrome
Short stature
Learning difficulties
Friendly, extrovert personality
Transient neonatal hypercalcaemia
Supravalvular aortic stenosis
William’s syndrome
Characteristic cry (hence the name) due to larynx and neurological problems
Feeding difficulties and poor weight gain
Learning difficulties
Microcephaly and micrognathism
Hypertelorism
Cri du chat syndrome (chromosome 5p deletion syndrome)
A 2-year-old boy presents with chronic constipation. Shortly following birth he was diagnosed with an underlying genetic disorder. He had delayed passage of meconium as a neonate. He is referred to paediatric surgery and a rectal biopsy is performed. He is diagnosed with Hirschsprung’s disease.
Down’s syndrome
You review a 9-year-old boy in your clinic and on examination you notice he has a webbed neck, widely-spaced nipples, short stature and pectus carinatum. When you auscultate his heart you hear a mid-systolic murmur loudest in the pulmonary region.
Noonan syndrome
A 10-year-old boy presents to your clinic. He has learning difficulties, large low set eats, a long thin face, large testicles and a high arched palate.
Fragile X syndrome
