Majewski's polydactyly syndrome
Majewski's Polydactyly Syndrome
Majewski's Polydactyly Syndrome (pronunciation: ma-yef-ski's pol-ee-dak-til-ee sin-drome), also known as Short-rib polydactyly syndrome type II (SRPS II), is a rare genetic disorder characterized by numerous abnormalities.
Etymology
The syndrome is named after the Polish geneticist, Prof. Jan Majewski, who first described the condition in 1971.
Definition
Majewski's Polydactyly Syndrome is a congenital disorder, meaning it is present from birth. It is characterized by a combination of polydactyly (extra fingers or toes), short ribs, dwarfism, and various other skeletal and visceral abnormalities.
Symptoms
The most common symptoms of Majewski's Polydactyly Syndrome include:
- Polydactyly: The presence of extra fingers or toes.
- Short ribs: Ribs that are shorter than normal, which can lead to a narrow chest.
- Dwarfism: Short stature, typically resulting from a genetic or medical condition.
- Other skeletal abnormalities: These can include a narrow chest, short limbs, and underdeveloped lungs.
Causes
Majewski's Polydactyly Syndrome is caused by mutations in the IFT80 gene. This gene provides instructions for making a protein that is involved in the formation of cilia, which are small, hair-like structures that project from the surface of cells.
Diagnosis
Diagnosis of Majewski's Polydactyly Syndrome is typically made based on the presence of characteristic signs and symptoms. Genetic testing can confirm the diagnosis.
Treatment
There is currently no cure for Majewski's Polydactyly Syndrome. Treatment is supportive and based on the signs and symptoms present in each individual.
Related Terms
External links
- Medical encyclopedia article on Majewski's polydactyly syndrome
- Wikipedia's article - Majewski's polydactyly syndrome
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski