Genetic Disorders

Description Carpenter syndrome is a condition characterized by the premature fusion of skull bones (craniosynostosis); finger and toe abnormalities; and other developmental problems. The features in affected people vary. Craniosynostosis can give the head a pointed appearance; cause asymmetry of the head and face; affect the development of the brain, …

Definition Crouzon syndrome is a rare genetic disorder, also known as craniofacial dysostosis, It is a form of craniosynostosis, a condition in which there is a premature fusion of the fibrous joints (sutures) between certain bones of the skull. The sutures allow an infant’s head to grow and expand. Eventually, …

Description Apert syndrome, also known as “acrocephalosyndactyly”. It is a genetic disorder in which certain skull bones fuse together prematurely, which is known as craniosynostosis. This early fusion of the skull prevents it from developing normally and causes the child to have an unusual head and face shape. Children with …

Description Kabuki syndrome is a rare, multisystem disorder characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, skeletal abnormalities, and short stature. A wide variety of additional symptoms affecting multiple different organ systems can potentially occur. The specific symptoms associated with Kabuki syndrome can …

Definition Velocardiofacial syndrome, or VCFS, is a complex syndrome that has been associated with more than 30 different characteristics, including defects of the palate, heart defects, learning disabilities and distinct facial features. The severity of VCFS and the characteristics that appear vary widely among individuals. It’s inherited in an autosomal …

Definition Epidermolysis Bullosa (EB) is a group of rare genetic skin conditions, which is characterized by extremely fragile skin and recurrent blister formation, resulting from minor mechanical friction or trauma. The skin has two layers; the outer layer is called the epidermis and the inner layer called the dermis. Normally, …

Description Ankylosing spondylitis or AS, is a form of arthritis that primarily affects the spine, although other joints can become involved. It causes inflammation of the spinal joints (vertebrae) that can lead to severe, chronic pain and discomfort. The disease leads to calcification of the spine’s ligaments and discs and …

Definition Galactosemia is a rare, hereditary disorder of carbohydrate metabolism that affects the body’s ability to convert galactose (a sugar contained in milk, including human mother’s milk) to glucose (a different type of sugar). The disorder is caused by a deficiency of an enzyme galactose-1-phosphate uridyl transferase (GALT) which is …