Childhood_Syndromes_Flashcards
What are key features of Patau syndrome (trisomy 13)?
Features include microcephaly, small eyes, cleft lip/palate, polydactyly, and scalp lesions.
What are key features of Edward’s syndrome (trisomy 18)?
Features include micrognathia, low-set ears, rocker bottom feet, and overlapping fingers.
What are key features of Fragile X syndrome?
Features include learning difficulties, macrocephaly, long face, large ears, and macro-orchidism.
What are key features of Noonan syndrome?
Features include webbed neck, pectus excavatum, short stature, and pulmonary stenosis.
What are key features of Pierre-Robin syndrome?
Features include micrognathia, posterior displacement of the tongue (potential upper airway obstruction), and cleft palate.
What are key features of Prader-Willi syndrome?
Features include hypotonia, hypogonadism, and obesity.
What are key features of William’s syndrome?
Features include short stature, learning difficulties, friendly extrovert personality, transient neonatal hypercalcaemia, and supravalvular aortic stenosis.
What are key features of Cri du chat syndrome?
Features include a characteristic cry, feeding difficulties, poor weight gain, learning difficulties, microcephaly, micrognathism, and hypertelorism.
summarise
Childhood syndromes
Below is a list of common features of selected childhood syndromes
Patau syndrome (trisomy 13)
Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions
Edward’s syndrome (trisomy 18)
Micrognathia
Low-set ears
Rocker bottom feet
Overlapping of fingers
Fragile X
Learning difficulties
Macrocephaly
Long face
Large ears
Macro-orchidism
Noonan syndrome
Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis
Pierre-Robin syndrome*
Micrognathia
Posterior displacement of the tongue (may result in upper airway obstruction)
Cleft palate
Prader-Willi syndrome
Hypotonia
Hypogonadism
Obesity
William’s syndrome
Short stature
Learning difficulties
Friendly, extrovert personality
Transient neonatal hypercalcaemia
Supravalvular aortic stenosis
Cri du chat syndrome (chromosome 5p deletion syndrome)
Characteristic cry (hence the name) due to larynx and neurological problems
Feeding difficulties and poor weight gain
Learning difficulties
Microcephaly and micrognathism
Hypertelorism
*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
A newborn is found to have a number of congenital abnormalities including an extra finger on each hand, a cleft palate and lip, microphthalmia and microcephaly.
Which of the following chromosomes is most likely to be affected in this child?
9
12
13
18
21
13
A baby is born with microcephaly, small eyes, low-set ears, cleft lip and polydactyly - Patau syndrome
Important for meLess important
Patau syndrome is a chromosomal abnormality resulting in an extra full copy of chromosome 13 (trisomy 13). Like many of the chromosomal defects, physical and mental disability is common, in this case key distinguishing features to separate Patau’s from other trisomy disorders include polydactyly, cleft lips and palates, microcephaly and microphthalmia. Many children die before within a year of birth but those who survive will often go on to show intellectual and motor disability.
A newborn baby is noted to have low-set ears, rocker bottom feet and overlapping of her fingers. What is the most likely diagnosis?
Patau syndrome
Edward’s syndrome
William’s syndrome
Fragile X
Pierre-Robin syndrome
Edward’s syndrome
A baby is born with micrognathia, low-set ears, rocker bottom feet and overlapping of fingers - Edward’s syndrome
The correct answer is Edward’s syndrome (Trisomy 18). This genetic disorder is characterised by a distinct cluster of recognisable physical anomalies and severe intellectual disability. The features mentioned in the question - low-set ears, rocker-bottom feet, and overlapping fingers - are classic signs of Edward’s syndrome. Furthermore, other common findings may include micrognathia, small mouth and jaw, clenched hands with second and fifth fingers on top of the others, short sternum, and congenital heart disease.
Patau syndrome (Trisomy 13) is incorrect as it presents with different clinical features such as cleft lip or palate, polydactyly (extra digits), microphthalmia (small eyes), scalp defects, and congenital heart disease. Although there may be some overlap in physical characteristics between Patau syndrome and Edward’s syndrome due to them both being chromosomal disorders, the specific combination given in the question is more consistent with Edward’s syndrome.
William’s syndrome is also incorrect. This genetic condition is associated with ‘elfin’ facies (distinctive facial features such as a wide mouth, small nose, and full lips), cardiovascular disease (especially supravalvular aortic stenosis), hypercalcemia (high calcium levels in the blood), intellectual disability and an outgoing personality. The physical characteristics described do not match those found in William’s syndrome.
Fragile X is another incorrect choice. Fragile X Syndrome typically manifests as intellectual disability ranging from learning difficulties to severe cognitive impairment along with characteristic long face, large ears, hyperextensible joints especially fingers and behavioural problems like ADHD or autism spectrum disorder. The clinical features stated in the question do not correspond to this condition.
Finally, Pierre-Robin syndrome is not an appropriate diagnosis either. It primarily involves anomalies of the facial structures leading to micrognathia (undersized jaw), glossoptosis (downward displacement or retraction of the tongue) and often cleft palate causing feeding difficulties and respiratory problems but does not typically present with low-set ears or rocker-bottom feet.
In summary, while all these conditions have distinctive clinical presentations involving various degrees of developmental delay or intellectual disability along with physical malformations; based on UK guidelines for neonatal examination findings like low-set ears, rocker bottom feet and overlapping fingers are most indicative of Edward’s Syndrome.
A neonate is admitted to the neonatal intensive care unit with low Apgar scores at birth. On examination he is noted to have a micrognathia, low set ears, overlapping fingers and rocker-bottom feet. Which of the following is the most likely diagnosis?
Noonan’s syndrome
Patau syndrome
Down’s syndrome
Edward’s syndrome
Fragile X syndrome
A baby is born with micrognathia, low-set ears, rocker bottom feet and overlapping of fingers - Edward’s syndrome
Important for meLess important
This question focuses on childhood genetic syndromes. In this scenario, the neonate displays the classical signs of edward’s syndrome, making this the correct answer. Most often, these syndromes are diagnosed in the pre-natal period however some remain undiagnosed until birth, where they present after delivery with low apgar scores.
The mortality of those diagnosed with edward’s syndrome is very high and the average life expectancy is 5-12 days. Those who do survive experience multi-organ complications.
Many of the genetic syndromes have similarities and can be difficult to distinguish clinically if only some features are present. Genetic testing is important to confirm a diagnosis.
For final medical examinations, it would be worth noting the most common features of each syndrome.
