Tag: Developmental Delay
Prader-Willi Syndrome: Understanding the Genetic Disorder
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...
Biotinidase Deficiency: Understanding the Genetic Disorder
Biotinidase Deficiency is an inherited autosomal recessive disorder in which the enzyme biotinidase is deficient. The enzyme helps to recycle the vitamin biotin, and...
Lennox Gastaut Syndrome: Understanding The Complexity
Lennox Gastaut Syndrome is an epileptic disorder that occurs in infants and children. This condition is also called childhood encephalopathy. Infants or children with...
DiGeorge Syndrome: A Closer Look
What is DiGeorge Syndrome?
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic disease that is present from birth. The main reason...
Dandy Walker Malformation: Symptoms, Causes & Treatments
Dandy-walker malformation is a congenital or inborn brain disorder in which some of your child's brain structures remain underdeveloped (malformed). It results in neurological...
