Multiple pterygium syndrome is a rare genetic condition that affects multiple parts of the body. It is characterized by the presence of webbing or folds of skin, primarily in the joints, as well as other physical abnormalities. This condition can…
The SLC37A4 gene, also known as the glucose-6-phosphate transporter gene, is a genetic information which plays a crucial role in the transport and storage of glucose-6-phosphate. It is listed in the OMIM database, a catalog of genetic diseases and their…
Short QT syndrome (SQTS) is a rare genetic cardiac disorder associated with an increased risk of sudden death. It is characterized by abnormally short QT intervals on an electrocardiogram (ECG), indicating a faster than usual electrical signaling in the heart.…
Kleefstra syndrome, also known as 9q34.3 microdeletion syndrome or 9q34.3 microduplication syndrome, is a rare genetic condition that affects multiple body systems and is characterized by intellectual disability, developmental delay, and distinctive facial features Caused by deletions or duplications of…
Distal hereditary motor neuropathy type II (dHMN-II) is a rare neurological disorder characterized by the progressive weakening and wasting of muscles in the extremities. It is a hereditary condition, meaning it is passed down from generation to generation. dHMN-II is…
Costello syndrome is a rare genetic condition. It was first described in the scientific literature in 1971 by Dr. Jack Costello. The condition is named after him. The syndrome is also known as the “Costello syndrome” or the “Costello syndrome”.…
Familial isolated pituitary adenoma (FIPA) is a genetic condition characterized by the development of benign tumors called adenomas in the pituitary gland. These adenomas can cause various hormonal imbalances and lead to symptoms such as vision loss, headaches, and hormonal…
The RUNX2 gene, also known as Core Binding Factor Subunit Alpha-1 (CBFA1) or Acute Myeloid Leukemia 1 (AML1), is a gene that plays a crucial role in the development of bones and teeth. Mutations in this gene have been associated…
Schwartz-Jampel syndrome (SJS) is a rare genetic condition that affects the muscles and bones of the body. It is also known as chondrodystrophic myotonia and is classified as a myopathy. The syndrome was first described in 1962 by authors Schwartz…
The 5q Minus Syndrome, also known as 5q- Syndrome, is a rare genetic disorder that is associated with a deletion of a portion of the long arm on chromosome 5. This syndrome is a subtype of myelodysplastic syndromes, which are…