Definition/Description Rett syndrome is a rare progressive disorder of the nervous system, leading to impaired cognitive and physical development. The disorder results from a non-inherited genetic mutation, with almost all cases having no family history. Epidemiology Rett syndrome occurs almost exclusively in girls, affecting approximately 1 in every 10,000-15,000 females. The incidence rate in males…
Overview Noonan syndrome is a genetic disorder that prevents normal development in various parts of the body. A person can be affected by Noonan syndrome in a wide variety of ways. These include unusual facial characteristics, short stature, heart defects, other physical problems, and possible developmental delays. Noonan syndrome is caused by a genetic mutation…
Jacobsen syndrome is a condition caused by a loss of genetic material from chromosome 11. Because this deletion occurs at the end (terminus) of the long (q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal deletion disorder. The signs and symptoms of Jacobsen syndrome vary considerably. Most affected individuals have delayed…
Williams syndrome is a rare neurodevelopmental genetic disorder that features mild learning or developmental challenges, a high levels of calcium in the blood and urine, and a markedly outgoing personality. Williams Syndrome (WS) is a genetic condition that is present at birth and can affect anyone. It is characterized by medical problems, including cardiovascular disease,…
Levator Scapulae Syndrome is a “pain over the upper medial angle of the scapula” that is still used in clinical practice in certain settings round the world. This terminology describes a set of signs and symptoms that often present together without identifying the cause of the pain and dysfunction, as is the case with other…
What is down syndrome? Down syndrome (sometimes called Down’s syndrome) is a condition in which a child is born with an extra copy of their 21st chromosome — hence its other name, trisomy 21. This causes physical and mental developmental delays and disabilities. Many disabilities are lifelong, and they can also shorten life expectancy. However,…
INTRODUCTION: Spinal tumors are abnormal growth of cells(mass) that develop inside the spinal column, usually causing pain and other symptoms. Spine tumors may arise from any of the structures of the spine or the spinal column. They may arise in the cervical (neck), thoracic (mid-back) or lumbosacral (low back) regions. They may originate in the…
INTRODUCTION OF KYPHOSIS :- kyphosis commonly known as hunchback, is described as an excessive antero-posterior curvature of the thoracic spine of greater than 40°. Normal kyphosis angles can vary between 20° and 40° in the younger public, however, in older population, the mean kyphosis angle is 48° to 50° in women and about 44° in…
INTRODUCTION:- Facet joint syndrome is a common cause of back and neck pain. It is caused by wear and tear on a joint or joints between your vertebrae (small bones that make up your spine). Facet joints link the vertebrae (small back bones) together in your spine. These joints stabilize the spine and allow you…
What is a Herniated Disc? A Herniated disc, also called a slipped disc, is a common spinal condition that can cause significant pain and discomfort. ANATOMY OF IV DISC AND VERTEBRAE FUNCTION OF INTERVERTEBRAL DISC:- The discs throughout the spine have three primary functions: STAGES OF DISC HERNIATION:- There are four types of herniated discs…
