biology

MacDermot–Winter syndrome

MacDermot–Winter syndrome is a biology topic covered in the lgStudy science library. This page brings together a partial reference excerpt, illustrations, worked examples, real-world applications and a short study plan, so you can understand MacDermot–Winter syndrome rather than just read about it. In short: MacDermot–Winter syndrome is a very rare fatal genetic disorder which is characterized by pre-natal developmental delay, cranio-facial dysmorphisms (such as microcephaly or dolichocephaly), genitalia hypoplasia and congenital-onset seizures. Its prevalence is less than 1 in a million live births.

Key takeaways

MacDermot–Winter syndrome belongs to biology; place it in that map before memorising details.
Learn the definition first, then one example that makes the definition concrete.
Connect MacDermot–Winter syndrome to a quantity you can measure, compute or draw — that is where exam questions come from.
Reproduce the core statement of MacDermot–Winter syndrome from memory before moving on to harder problems.

Reference excerpt

MacDermot–Winter syndrome is a very rare fatal genetic disorder which is characterized by pre-natal developmental delay, cranio-facial dysmorphisms (such as microcephaly or dolichocephaly), genitalia hypoplasia and congenital-onset seizures. Its prevalence is less than 1 in a million live births.

Etiology This disorder was discovered by MacDermot et al. in the early winter of 1989, when he described two brothers that came from consanguineous Moslem Pakistani parents. These brothers showed the symptoms mentioned above, but there were also additional symptoms in this case: a prominent glabella, arched eyebrows, a low frontal hairline, small nose, large ears, camptodactyly and nipples with a wide space in between, absence of psychomotor development, and a thriving failure. The same siblings did not live past 1 year of age (one lived to be 21 days old and the other lived to be 7 months old). When one of then were examined (post-mortem), cerebral ventricle dilatation and hydronephrosis were observed. One of the brothers had microcephaly that was detectable by fetal ultrasound when it was 17 weeks into gestation.

References

Worked examples

Example 1 — a first encounter with MacDermot–Winter syndrome

Start with the simplest possible case. Write down what MacDermot–Winter syndrome claims or describes in one sentence, then invent the smallest concrete situation in which that sentence is true. In biology, the smallest case is usually a single object, a single equation or a single measurement. Check that every symbol or term in your sentence has a meaning in that case.

Example 2 — changing one variable

Take the situation from Example 1 and change exactly one quantity: double it, halve it, or set it to zero. Predict what should happen to MacDermot–Winter syndrome before you calculate. Comparing your prediction with the result is the fastest way to find out whether you understand the idea or only the words.

Example 3 — an exam-style question

Typical questions about MacDermot–Winter syndrome ask you to (a) state it precisely, (b) apply it to given data, and (c) explain a limitation. Practise writing all three answers in under five minutes; the third part is what separates a full-mark answer from an average one.

Applications of MacDermot–Winter syndrome

In research: MacDermot–Winter syndrome appears in biology research whenever the underlying quantities have to be modelled precisely. Papers usually cite it as a starting assumption and then explore where it breaks down.
In technology and industry: Engineering practice reuses MacDermot–Winter syndrome in design rules, simulations and safety margins. Knowing the idea lets you read a specification sheet and understand why the numbers look the way they do.
In the classroom: MacDermot–Winter syndrome is common in secondary-school and first-year university syllabi. It links to neighbouring topics Genetic disorder stubs, Rare genetic syndromes, Syndromes with microcephaly, so understanding it makes those chapters shorter.
In everyday life: Look for MacDermot–Winter syndrome outside the textbook — in sport, cooking, traffic, electronics or the sky above you. An example you found yourself is remembered far longer than one you were given.

Ask Teacher Smith questions about this articleOpens your AI tutor with a question about “MacDermot–Winter syndrome” →

Affiliate

Preply — study more efficiently by working with a personal tutor. 50% off.

How to study MacDermot–Winter syndrome in 20 minutes

Read the reference excerpt below once, without taking notes.
Close the page and write down what MacDermot–Winter syndrome means in your own words.
Compare your version with the excerpt and mark what you missed.
Work through the three examples above with pen and paper.
Explain MacDermot–Winter syndrome out loud to somebody else — or to Teacher Smith in the lgStudy chat.

Frequently asked questions

What is MacDermot–Winter syndrome in simple terms?

Why does MacDermot–Winter syndrome matter?

Because it connects several biology ideas at once: it gives you a definition you can apply, a quantity you can calculate, and a way to check whether a result is plausible.

How should I study MacDermot–Winter syndrome?

Read the excerpt, restate it from memory, then work through the examples and applications listed on this page. The five-step study plan above takes about twenty minutes.

What does this page cover?

It gives you a compact reference excerpt plus original lgStudy explanations, examples, applications and study material on MacDermot–Winter syndrome.