De Barsy syndrome
De Barsy Syndrome
De Barsy Syndrome (pronunciation: deh bar-see sin-drome) is a rare, autosomal recessive genetic disorder characterized by a range of physical and developmental abnormalities. The syndrome was first described by André De Barsy and colleagues in 1968.
Etymology
The syndrome is named after the Belgian pediatrician André De Barsy, who first described the condition in 1968. The term "syndrome" is derived from the Greek word "syndromē," which means "concurrence of symptoms," or "running together."
Symptoms and Signs
De Barsy Syndrome is characterized by a variety of symptoms, including:
- Cutis laxa, a condition that causes the skin to be loose, hanging, and wrinkled
- Progeroid features, which give the appearance of premature aging
- Ophthalmological abnormalities, such as clouding of the cornea and other eye problems
- Intellectual disability
- Growth retardation
- Musculoskeletal abnormalities
Diagnosis
Diagnosis of De Barsy Syndrome is typically based on the presence of characteristic symptoms and signs. Genetic testing can confirm the diagnosis by identifying mutations in the PYCR1, ALDH18A1, or ATP6V0A2 genes, all of which have been associated with the syndrome.
Treatment
There is currently no cure for De Barsy Syndrome. Treatment is symptomatic and supportive, and may include physiotherapy, speech therapy, and occupational therapy. Regular follow-up with a team of specialists is recommended to manage the various aspects of the syndrome.
See Also
References
External links
- Medical encyclopedia article on De Barsy syndrome
- Wikipedia's article - De Barsy 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