Saul
Saul Syndrome
Saul Syndrome (pronounced: /sɔːl/), also known as Saul-Wilson Syndrome, is a rare genetic disorder characterized by short stature, microcephaly, and skeletal abnormalities.
Etymology
The term "Saul Syndrome" is derived from the names of the two doctors, Dr. Roberta A. Pagon and Dr. Robert B. Wilson, who first described the condition in 1990. The syndrome is also commonly referred to as Saul-Wilson Syndrome in their honor.
Definition
Saul Syndrome is a rare genetic disorder that primarily affects the skeletal system. Individuals with this condition typically have short stature, microcephaly (small head size), and various skeletal abnormalities. Other symptoms may include hearing loss, vision problems, and developmental delay.
Symptoms
The most common symptoms of Saul Syndrome include:
- Short stature
- Microcephaly
- Skeletal abnormalities
- Hearing loss
- Vision problems
- Developmental delay
Causes
Saul Syndrome is caused by mutations in the COG4 gene. This gene provides instructions for making a protein that is involved in the structure and function of the Golgi apparatus, an organelle that modifies and sorts proteins and lipids (fats) for transport to their final destinations within or outside the cell.
Diagnosis
Diagnosis of Saul Syndrome is based on clinical examination and confirmed by genetic testing to identify mutations in the COG4 gene.
Treatment
There is currently no cure for Saul Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and management of hearing and vision problems.
Related Terms
External links
- Medical encyclopedia article on Saul
- Wikipedia's article - Saul
This WikiMD 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