Rett Syndrome Rett Syndrome Definition Rett syndrome (RTT) is a rare, severe neurological disorder that affects mostly girls. Girls with the syndrome show normal development during the…
Hematuria Hematuria Definition Hematuria is a condition where there is blood in the urine. If this happens, it may be nothing to worry about or it…
Costello Syndrome Costello Syndrome Definition Costello syndrome is a disorder that affects many parts of the body. Its condition is characterized by delayed development and intellectual disability,…
Achondroplasia Achondroplasia Definition Achondroplasia is a skeletal disorder, characterized by failure of normal conversion of cartilage into bone that begins during fetal life and results in…
Central Core Disease Central Core Disease Definition Central core disease (CCD) is a disorder that affects muscles used for movement (skeletal muscles). It is also known as central…
Canavan Disease Canavan Disease Definition Canavan disease is a rare inherited disorder that damages the ability of nerve cells (neurons) in the brain to send and receive…
Aicardi Syndrome Aicardi Syndrome Definition Aicardi syndrome is a rare genetic disorder that interferes with the formation of the corpus callosum, which is the structure that connects…
Hypotonia Hypotonia Definition Hypotonia is a common finding with cerebral palsy and other neuromuscular disorders. It is commonly known as floppy baby syndrome, which is a…
Papilledema Papilledema Definition Papilledema is the swelling of the optic disc caused by increased intracranial pressure. The optic nerve head, also called the optic disk or…
Spina Bifida Spina Bifida Definition Spina bifida is a congenital defect caused by incomplete formation of the neural tube, in which the vertebral column is not fully…
Hydrocephalus Hydrocephalus Definition Hydrocephalus is a usually congenital condition in which an abnormal accumulation of cerebrospinal fluid in the cerebral ventricles causes enlargement of the skull…
Chest Radiograph Chest Radiograph Definition Chest radiograph, which is also called a chest X-ray (CXR), or chest film is a picture of the chest that shows our…