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How Much Do You REALLY Know About Rare Diseases?

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Rare Disease Day is celebrated annually in order to raise awareness and recognition of rare diseases, and the impact they have on the lives of people with such conditions in order to improve access to diagnosis, treatment, health and social care to those affected. It is estimated that there are 300 million people globally living with one or more of the 6000 known rare diseases today.

In order to celebrate the day which is celebrated tomorrow (29th February 2020), here is a quiz to test your knowledge on some of them.


What system of the body does cleidocranial dysplasia affect the development of?

Science Direct
Correct! Wrong!

Correct! Cleidocranial dysplasia is a rare skeletal disease of autosomal dominant nature that affects the development of bones and teeth. Patients may present with a broad forehead, midface hypoplasia, and significant dental anomalies. (UpToDate)

What disease is consistent with expansion of the cytosine-adenine-guanine trinucleotide in the HTT gene, and is characterised by dementia, chorea, and psychiatric illness?

Family Doctor
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That’s right! According to UpToDate, a meta-analysis showed that the world prevalence of the condition in 2012 was 2.7 per 100,000, with a higher prevalence in Europe, North America and Australia.

A chronic, progressive course of phenotypic features such as hirsutism, organomegaly and the presence of coarse facial features, along with urinary excretion of GAG fragments are classical features of which of the following?

Health Europa
Correct! Wrong!

Correct! MPSs are a family of inherited lysosomal storage disorders that result in the build-up of partially degraded GAG, resulting in dysfunction and clinical abnormalities. Laboratory studies will show urinary excretion of GAG fragments and leukocyte inclusion bodies.

An 69 year old Caucasian male is currently being treated for a condition with rituximab and chemotherapy. Previously performed laboratory studies showed significant anaemia with monoclonal IgM gammopathy, and a BM biopsy displayed infiltration of small lymphocytes of plasma cell differentiation. What condition is he most likely being treated for?

Atlas of Genetics and Cytogenetics in Oncology and Haematology
Correct! Wrong!

Correct! Waldenström Macroglobulinemia is a rare disorder of excess IgM protein production with a mean incidence of approximately three per million people. Diagnosis tends to occur around the age of 70, and is more common in Caucasians than other ethnic groups. Multiple myeloma is differentiated from WM usually due to the presence of hypercalcemia and renal insufficiency, with bone lytic lesions. Also, IgG and IgA are more commonly produced in MM, unlike WM where IgM is the monoclonal immunoglobulin.

A two year old baby girl is brought to her primary physician by her mother with dysmorphic facial features consisting of frontal bossing, prominent eyes and small, low set ears, and areas of thickened skin that developed shortly after birth. On closer inspection, patchy alopecia and shiny skin with diffuse patterned atrophic and sclerotic patches across her abdomen and back were appreciated. What condition does this child most likely have?

Correct! Wrong!

That’s right! The diagnosis of HGPS is determined by the presence of clinical features: failure to thrive in first year of life, characteristic facial appearance, alopecia and prominent scalp veins, and sclerotic skin changes. Identification can also be achieved by genetic testing of the causative variant in the LMNA gene. The Progeria Research Foundation estimates that the prevalence of the condition globally is 1 in 20 million people (5).

This disease is caused by prions, which induce abnormal brain tissue building resulting in slowing of mental processes, frontal release signs and cerebellar type dysarthria in late disease. It results in unicentric and round plaques with radiating spicules particularly in the cerebellum, which are also periodic acid-Schiff (PAS) positive. What disease do you think this is?

Leonard Norkin Virology Site
Correct! Wrong!

Correct! Kuru is a CNS disease that was endemic in Papua New Guinea and was believed to be transmitted from person to person by ritual cannibalism in the Fore tribes, in particular by eating the brains of an infected individual. Although the disease is 100% lethal, it is close to none-existent due to cannibalism being outlawed.

How much do you know about rare diseases?

Tough right? But how did you get on?

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Ola Falade

The author Ola Falade

Ola is a medical student at The Royal College of Surgeons Ireland (RCSI).

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