Diseases

Huntington Disease (HD) is a rare, progressive neurodegenerative disorder characterized by involuntary motor movements (chorea), cognitive decline, and psychiatric disturbances. It is an autosomal dominant…

Osteogenesis Imperfecta (OI) is a heterogeneous group of genetic disorders characterized by bone fragility, low bone mass, and susceptibility to fractures with minimal trauma. The…

Ehlers-Danlos Syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and generalized tissue fragility. While there are…

Marfan Syndrome (MFS) is an autosomal dominant multisystemic connective tissue disorder caused by mutations in the *FBN1* gene. It primarily affects the skeletal, cardiovascular, and…

Klinefelter Syndrome (KS) is a congenital genetic disorder characterized by the presence of at least one extra X chromosome in a male, resulting in a…

Turner Syndrome (TS) is a chromosomal condition resulting from the complete or partial absence of one X chromosome in phenotypic females. It is characterized by…

Down syndrome is a chromosomal disorder caused by the presence of all or part of a third copy of chromosome 21. It is the most…

Osteomyelitis is an inflammatory bone disease typically caused by an infecting microorganism. It can be acute or chronic and may arise from hematogenous spread, contiguous…

Paget’s Disease of Bone (PDB) is a chronic skeletal disorder characterized by disordered bone remodeling. It involves excessive, disorganized bone resorption followed by disorganized bone…

Osteomalacia is a metabolic bone disorder characterized by the softening of bones due to defective bone mineralization. Unlike osteoporosis, which involves a decrease in bone…