Peters-plus syndrome
Peters-plus syndrome
Peters-plus syndrome (pronunciation: /ˈpiːtərz plʌs ˈsɪndroʊm/) is a rare genetic disorder characterized by a wide range of physical abnormalities and developmental delays. The syndrome is named after Dr. Albert Peters, who first described the condition in 1972.
Etymology
The term "Peters-plus syndrome" is derived from the name of the physician who first described the condition, Dr. Albert Peters, and the word "plus", which refers to the additional symptoms that are often associated with the syndrome.
Symptoms
The most common symptoms of Peters-plus syndrome include corneal opacity, short stature, developmental delay, and cleft lip and palate. Other symptoms may include brachydactyly (short fingers and toes), heart defects, and kidney abnormalities.
Causes
Peters-plus syndrome is caused by mutations in the B3GALTL gene. This gene provides instructions for making an enzyme that is involved in the production of a certain type of sugar molecule. Mutations in the B3GALTL gene disrupt this process, leading to the symptoms of Peters-plus syndrome.
Diagnosis
Diagnosis of Peters-plus syndrome is based on the presence of characteristic physical abnormalities and confirmed by genetic testing for mutations in the B3GALTL gene.
Treatment
Treatment for Peters-plus syndrome is symptomatic and supportive. This may include surgery to correct physical abnormalities, physical therapy to improve motor skills, and special education services to address developmental delays.
Prognosis
The prognosis for individuals with Peters-plus syndrome varies depending on the severity of symptoms. With appropriate treatment and support, many individuals with the syndrome can lead fulfilling lives.
See also
External links
- Medical encyclopedia article on Peters-plus syndrome
- Wikipedia's article - Peters-plus 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