Genitopatellar syndrome
Genitopatellar Syndrome
Genitopatellar syndrome (pronunciation: jen-i-toh-puh-te-lar sin-drohm) is a rare genetic disorder characterized by congenital flexion contractures of the lower extremities, abnormal genitalia, and severe intellectual disability.
Etymology
The term "Genitopatellar" is derived from the Latin words "genitus" meaning "birth" and "patella" meaning "kneecap". The syndrome is named after the two most prominent features of the condition: abnormalities in the genitalia and the kneecaps.
Symptoms
The primary symptoms of Genitopatellar syndrome include flexion contractures of the lower extremities, microcephaly (small head size), hypotonia (low muscle tone), and intellectual disability. Other symptoms may include renal anomalies, congenital heart defects, and facial dysmorphism.
Genetics
Genitopatellar syndrome is caused by mutations in the KAT6B gene. This gene provides instructions for making a protein that is involved in the regulation of gene expression. The mutation disrupts the normal function of the protein, leading to the symptoms of Genitopatellar syndrome.
Diagnosis
Diagnosis of Genitopatellar syndrome is based on clinical examination and confirmed by genetic testing to identify mutations in the KAT6B gene.
Treatment
There is currently no cure for Genitopatellar syndrome. Treatment is symptomatic and supportive, and may include physical therapy for contractures, special education for intellectual disability, and management of other medical complications.
See also
References
- Genitopatellar syndrome at National Center for Biotechnology Information
- Genitopatellar syndrome at National Organization for Rare Disorders
External links
- Medical encyclopedia article on Genitopatellar syndrome
- Wikipedia's article - Genitopatellar 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