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Which body sign in the stem names the syndrome?
More, if you want it
What does the patient report or show from birth?Tap a term: its definition, what you can do with it, and how often the exam asks it.
You can: Tell Down syndrome from DiGeorge syndrome by epicanthic folds with feeding difficulty.
Definition: a 22q11.2 deletion with heart defects, low calcium in newborns and a long face.
You can: Tell DiGeorge syndrome from Williams syndrome by low calcium in a newborn.
Definition: a syndrome with an elfin face, high calcium and an over-friendly manner.
You can: Tell Williams syndrome from DiGeorge syndrome by high calcium and an over-friendly manner.
Definition: a 45,X syndrome in females with a webbed neck and normal IQ.
You can: Tell Turner syndrome from Williams syndrome by webbed neck and normal IQ in girls.
Definition: a syndrome with infantile spasms, intractable epilepsy and skin lesions.
You can: Tell tuberous sclerosis from neurofibromatosis type 1 by infantile spasms and intractable epilepsy.
Definition: a dominant syndrome with cafe-au-lait macules and Lisch nodules.
You can: Tell neurofibromatosis type 1 from tuberous sclerosis by cafe-au-lait macules and Lisch nodules.
Definition: a recessive metabolic disorder with fair skin and a mousy odour when untreated.
You can: Tell phenylketonuria from tuberous sclerosis by fair skin with a mousy odour.
Definition: a syndrome with short stature, skin picking and daytime sleepiness.
You can: Tell Prader-Willi syndrome from foetal alcohol syndrome by skin picking with daytime sleepiness.
Definition: harm from alcohol before birth, with a small head and low birth weight.
You can: Tell foetal alcohol syndrome from Prader-Willi syndrome by prenatal alcohol and a small head.
Each card is one term. The grey line is what the patient says, which is what the question stem gives.
Summary
- : a syndrome with , a heart defect and feeding difficulty.
Down syndrome is a syndrome of epicanthic folds, congenital heart disease and feeding difficulty in a child.
is a syndrome of epicanthic folds, congenital heart disease and feeding difficulty in a child. Epicanthic folds are skin folds at the inner corners of the eyes.
Slanted eyes, epicanthal folds and a flat nose make up the typical face of Down syndrome. Heart defects, thyroid problems and bowel problems are the common physical complications. The intellectual disability is usually mild to moderate.
Bethan is a schoolgirl who attends a community paediatric clinic. Her baby notes record epicanthic folds and feeding difficulty. Her mother says, "She had heart trouble from birth."
| Sign | Down syndrome | DiGeorge syndrome |
|---|---|---|
| Face | Epicanthic folds | Long face |
| Newborn | Feeding difficulty | Low calcium |
| Heart | Defect | Defect |
Low calcium in a newborn with a heart defect points to .
DiGeorge syndrome is a 22q11.2 deletion with cardiac defects, neonatal hypocalcaemia (low calcium in newborns) and a long face. DiGeorge syndrome is also called velocardiofacial syndrome. Short stature, microcephaly and mild to moderate intellectual disability also occur. Underactive parathyroid glands cause the low calcium. Thyroid disease, anxiety and psychosis also occur.
Analogy
The stem is a parcel. The heart defect is the town name that several houses share. Epicanthic folds are the house number that only Down syndrome has.
Where the analogy breaks: a child can carry several signs, and some signs overlap between syndromes.
6 more sections on Body signs of intellectual disability syndromes: Down, Williams, Turner, Prader-Willi and more
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