biology

Microcephaly lymphoedema chorioretinal dysplasia

Microcephaly lymphoedema chorioretinal dysplasia 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 Microcephaly lymphoedema chorioretinal dysplasia rather than just read about it. In short: Microcephaly lymphoedema chorioretinal dysplasia also known as lymphedema microcephaly chorioretinopathy syndrome is a rare genetic condition associated with: Small head (Microcephaly) Puffy feet (Lymphoedema) Eye problems (Chorio-retinal dysplasia i.e. changes in the retina) In 1992, Feingold and Bartoshesky described two unrelated children with microcephaly, lymphoedema and chorioretinal dysplasia (MIM 152950) as…

Key takeaways

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

Reference excerpt

Microcephaly lymphoedema chorioretinal dysplasia also known as lymphedema microcephaly chorioretinopathy syndrome is a rare genetic condition associated with:

Small head (Microcephaly) Puffy feet (Lymphoedema) Eye problems (Chorio-retinal dysplasia i.e. changes in the retina) In 1992, Feingold and Bartoshesky described two unrelated children with microcephaly, lymphoedema and chorioretinal dysplasia (MIM 152950) as a distinct entity. Since then there have been further reports of children with these three features (Angle et al. 1994, Fryns et al. 1995, Limwongse et al. 1999, Casteels et al. 2001) Children have also been seen with two of the above features:

Microcephaly and lymphoedema Microcephaly and chorioretinal dysplasia with or without intellectual disability

Presentation The distinct facial feature include upslanting palpebral fissures, a broad nose with rounded tip, long philtrum with a thin upper lip, pointed chin and prominent ears (Vasudevan 2005)

Genetics The former (microcephaly and lymphoedema) has been described as an autosomal dominant (MIM 156590) or X-linked trait, while the latter (microcephaly and chorioretinal dysplasia) has been described as autosomal dominant, autosomal recessive (MIM 251270 or Mirhosseini-Holmes-Walton syndrome) or X-linked trait.

Diagnosis

References

1. Feingold M, Bartoshesky L (1992) Microcephaly, lymphoedema, and chorioretinal dysplasia: a distinct syndrome? Am J Med Genet; 43:1030-1031. 2. Angle B, Holgado S, Burton BK (1994) Microcephaly, lymphoedema, and chorioretinal dysplasia: report of two additional cases. Am J Med Genet; 53:99-101 3. Fryns JP, Smeets E, Van den Berghe H. (1995) On the nosology of the "primary true microcephaly, chorioretinal dysplasia, lymphoedema" association. Clin Genet; 48:131-133 4.Limwongse C, Wyszynski RE, Dickerman LH, Robin NH (1999) Microcephaly-lymphoedema-chorioretinal dysplasia: a unique genetic syndrome with variable expression and possible characteristic facial appearance. Am J Med Genet; 86:215-218. 5. Casteels I, Devriendt K, Van Cleynenbreugel H, Demaerel P, De Tavernier F, Fryns JP (2001). Autosomal dominant microcephaly—lymphoedema-chorioretinal dysplasia syndrome. Br J Ophthalmol.; 85(4):499-500 6.Crowe CA, Dickerman LH (1986). A genetic association between microcephaly and lymphoedema. Am J Med Genet; 24:131-135. 7.Vasudevan, Pradeep C, Garcia-Minaur, Sixto, Botella, Maria Pilar, Perez-Aytes, Antonio, Shannon, Nora L, Quarrell Oliver W. J (2005) Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature. Clinical Dysmorphology: July 2005 - Volume 14 - Issue 3 - pp 109–116

External links

Worked examples

Example 1 — a first encounter with Microcephaly lymphoedema chorioretinal dysplasia

Start with the simplest possible case. Write down what Microcephaly lymphoedema chorioretinal dysplasia 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 Microcephaly lymphoedema chorioretinal dysplasia 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 Microcephaly lymphoedema chorioretinal dysplasia 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 Microcephaly lymphoedema chorioretinal dysplasia

In research: Microcephaly lymphoedema chorioretinal dysplasia 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 Microcephaly lymphoedema chorioretinal dysplasia 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: Microcephaly lymphoedema chorioretinal dysplasia is common in secondary-school and first-year university syllabi. It links to neighbouring topics Genetic diseases and disorders, so understanding it makes those chapters shorter.
In everyday life: Look for Microcephaly lymphoedema chorioretinal dysplasia 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.

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How to study Microcephaly lymphoedema chorioretinal dysplasia in 20 minutes

Read the reference excerpt below once, without taking notes.
Close the page and write down what Microcephaly lymphoedema chorioretinal dysplasia 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 Microcephaly lymphoedema chorioretinal dysplasia out loud to somebody else — or to Teacher Smith in the lgStudy chat.

Frequently asked questions

What is Microcephaly lymphoedema chorioretinal dysplasia in simple terms?

Microcephaly lymphoedema chorioretinal dysplasia also known as lymphedema microcephaly chorioretinopathy syndrome is a rare genetic condition associated with: Small head (Microcephaly) Puffy feet (Lymphoedema) Eye problems (Chorio-retinal dysplasia i.e. changes in the retina) In 1992, Feingold and…

Why does Microcephaly lymphoedema chorioretinal dysplasia 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 Microcephaly lymphoedema chorioretinal dysplasia?

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 Microcephaly lymphoedema chorioretinal dysplasia.