Short answer · Medically reviewed summary · Last updated: 2023-07-13
SHORT syndrome is a rare genetic disorder characterized by a variety of physical and developmental abnormalities. It is estimated that the prevalence of SHORT syndrome is extremely low, with only a few dozen cases reported worldwide.
What is the prevalence of SHORT syndrome?
Prevalence of SHORT syndrome: how many people are affected worldwide, differences by sex and region, with sources.
SHORT syndrome is a rare genetic disorder characterized by a variety of physical and developmental abnormalities. It is estimated that the prevalence of SHORT syndrome is extremely low, with only a few dozen cases reported worldwide. Due to its rarity, the exact prevalence of this syndrome is difficult to determine.
Individuals with SHORT syndrome typically exhibit growth retardation, resulting in short stature. Other common features include a triangular face, a small chin, a prominent nose, and a high-pitched voice. Additionally, affected individuals may experience delayed development, intellectual disability, and hearing loss.
SHORT syndrome is caused by mutations in the PIK3R1 gene, which plays a role in regulating cell growth and division. These mutations disrupt normal cellular processes, leading to the characteristic features of the syndrome.
As SHORT syndrome is a rare condition, it is crucial for affected individuals to receive appropriate medical care and support. Genetic counseling may be recommended for families affected by this syndrome to understand the inheritance pattern and potential risks for future pregnancies.
