Progeroid syndrome De Barsy type
Progeroid syndrome De Barsy type is a rare genetic disorder characterized by an aged appearance at birth, growth retardation, and intellectual disability. The syndrome is named after the Belgian pediatrician Albert De Barsy, who first described the condition in 1968.
Symptoms and Signs[edit | edit source]
The most noticeable symptom of Progeroid syndrome De Barsy type is the premature aging appearance of the affected individuals. This includes wrinkled skin, a thin nose, and a small jaw. Other symptoms include intellectual disability, growth retardation, and cataracts. The severity of these symptoms can vary greatly among individuals.
Causes[edit | edit source]
Progeroid syndrome De Barsy type is caused by mutations in the PYCR1 gene. This gene provides instructions for making an enzyme that is involved in the production of proline, an amino acid that is a building block of proteins. Mutations in the PYCR1 gene disrupt the normal function of the enzyme, leading to the symptoms of Progeroid syndrome De Barsy type.
Diagnosis[edit | edit source]
Diagnosis of Progeroid syndrome De Barsy type is based on the physical symptoms and confirmed by genetic testing. The testing involves sequencing the PYCR1 gene to identify any mutations.
Treatment[edit | edit source]
There is currently no cure for Progeroid syndrome De Barsy type. Treatment is focused on managing the symptoms and improving the quality of life of the affected individuals. This may include physical therapy for muscle weakness, special education for intellectual disability, and surgery for cataracts.
Prognosis[edit | edit source]
The prognosis for individuals with Progeroid syndrome De Barsy type varies depending on the severity of the symptoms. Some individuals may have a normal lifespan, while others may have a shortened lifespan due to complications such as heart disease.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Progeroid syndrome De Barsy type is a rare disease.
| Progeroid syndrome De Barsy type Resources | |
|---|---|
|
 |
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
