Diseases

Social Anxiety Disorder (social phobia) is the third largest mental health care problem in the world. Latest government epidemiological data show social anxiety affects over 7% of the population at any given time.  The lifetime prevalence rate (i.e., the chances of developing social anxiety disorder at any time during the …

Social Anxiety Disorder (social phobia) is the third largest mental health care problem in the world. Latest government epidemiological data show social anxiety affects over 7% of the population at any given time.  The lifetime prevalence rate (i.e., the chances of developing social anxiety disorder at any time during the …

Definition Thrombocytopenia-absent radius (TAR) syndrome is a rare condition that is apparent at birth. Affected infants are born with incomplete or missing forearms. Typically, the bone on the thumb side of the forearm (radius) is absent, but other bones may be missing or abnormally formed. TAR syndrome also causes life-threatening …

is a trisomy affecting the ninth chromosome. Full trisomy 9 would mean that all of the cells in the baby’s body and placenta had three copies of chromosome 9. It is also possible to have partial trisomy 9, meaning there are two full copies of the ninth chromosome plus an …

Asperger’s Disorder is a milder variant of Autistic Disorder.   Both Asperger’s Disorder and Autistic Disorder are in fact subgroups of a larger diagnostic category.  This larger category is called either Autistic Spectrum Disorders, mostly in European countries, or Pervasive Developmental Disorders (“PDD”), in the United States.  In Asperger’s Disorder, …

Joubert syndrome is a rare genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination.     Diagnosis The disorder is characterized by absence or underdevelopment of the cerebellar vermis and a malformed brain stem (molar tooth sign). The most common features include ataxia (lack of muscle control), hyperpnea (abnormal breathing patterns), sleep apnea, abnormal eye and tongue movements, …

Tuberous sclerosis–also called tuberous sclerosis complex (TSC)1–is a rare, multi-system genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. It commonly affects the central nervous system and results in a combination of symptoms including …

You have probably seen people who have Down syndrome. They have certain physical features, such as a flatter face, upward slanting eyes, and a somewhat larger tongue. They may have medical problems, too, such as heart defects. And they usually have some mental retardation, which means they may have trouble …

West syndrome is an uncommon to rare and serious form of infantile spasms (). It is named after the English physician, William James West (1793-1848), who first described it in an article published in The Lancet in 1841. Other names for it are “Generalized Flexion Epilepsy”, “Infantile Epileptic Encephalopathy”, “Infantile …

About Crouzon Syndrome Background: In 1912, Crouzon described the hereditary syndrome of craniofacial dysostosis in a mother and son. He described the triad of calvarial deformities, facial anomalies, and exophthalmos. Crouzon syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity. It is characterized by premature closure of …