Williams syndrome is a rare genetic condition caused by the deletion of several genes on chromosome 7. It affects multiple systems in the body, leading to distinctive facial features, cardiovascular problems, developmental delays, and unique cognitive and behavioral traits. Because…
Prader-Willi syndrome (PWS) is caused by specific genetic abnormalities involving a particular region on chromosome 15, specifically the paternal copy of chromosome 15. The core cause lies in the loss of function of genes in the 15q11-q13 region that are…
Angelman syndrome is a complex genetic disorder that primarily affects the nervous system, leading to a variety of complications that impact multiple aspects of an individual’s health and development. The complications arise because the syndrome disrupts normal brain function, causing…
Rett syndrome is a rare and complex genetic disorder that mostly affects girls. It causes serious problems with brain development, leading to a wide range of physical, mental, and behavioral symptoms. The signs of Rett syndrome usually start to show…
Fragile X syndrome is caused by a specific genetic mutation involving the FMR1 gene located on the X chromosome. This mutation is characterized by an abnormal expansion of a sequence of three DNA building blocks—cytosine, guanine, and guanine (CGG)—repeated many…
Dwarfism is a medical condition characterized primarily by **short stature**, typically defined as an adult height of 4 feet 10 inches (147 cm) or less. It results from various genetic or medical causes that affect bone growth and development. The…
Achondroplasia is caused by a specific genetic mutation that affects the way cartilage is converted into bone during development. This mutation occurs in the gene known as FGFR3 (fibroblast growth factor receptor 3). Normally, FGFR3 plays a role in regulating…
Osteogenesis imperfecta (OI), often called brittle bone disease, is a genetic disorder characterized by fragile bones that break easily. The complications of OI extend far beyond just frequent fractures and can affect many parts of the body, leading to a…
Ehlers-Danlos syndrome (EDS) is a group of genetic disorders that affect connective tissues, which provide strength and elasticity to skin, joints, blood vessels, and other organs. The signs of EDS can vary widely but generally revolve around problems with joint…
Marfan syndrome is caused primarily by a **genetic mutation** in the gene called **FBN1**, which encodes the protein **fibrillin-1**. Fibrillin-1 is a crucial component of connective tissue, the material that supports and holds together many parts of the body such…