Hypotrichosis is a condition characterized by an abnormal deficiency of hair on the scalp or body. It may affect various areas, including the scalp, eyebrows, and eyelashes, and can...
Chronic granulomatous disease (CGD) is a rare genetic condition where white blood cells, known as phagocytes, cannot effectively destroy certain bacteria and fungi. This...
Pseudohypoparathyroidism (PHP) is a rare hereditary disorder characterized by the resistance or insensitivity of target organs to parathyroid hormone (PTH). The parathyroid glands are...
What is Prader-Willi Syndrome?
Prader-Willi syndrome (PWS) is a rare multisystem genetic disorder affecting the metabolic, endocrine, and neurologic systems due to abnormalities on chromosome...
Myotonia Congenita (MC) is a rare inherited neuromuscular disorder in which the muscles are not able to relax after contraction. This results in muscle...