Acanthocytosis (Spur Cell Anemia): Causes, Symptoms, Diagnosis & Treatment Guide
Acanthocytosis (Spur Cell Anemia): Causes, Symptoms, Diagnosis & Treatment Guide Learn about Acanthocytosis and spur cells, including causes like abetalipoproteinemia, neuroacanthocytosis, and liver disease. Understand symptoms, risk factors, diagnosis, complications, and treatment options. What Is Acanthocytosis? Acanthocytosis refers to the presence of acanthocytes (spur cells) in the bloodstream. Acanthocytes are abnormally shaped red blood cells […]
MCADD Explained: Genetic Background, Metabolic Crisis Prevention & Long-Term Outlook
MCADD Explained: Genetic Background, Metabolic Crisis Prevention & Long-Term Outlook What Is Medium Chain Acyl-CoA Dehydrogenase Deficiency? Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) is a genetic metabolic disorder in which the body cannot break down medium-chain fatty acids to produce energy. The condition occurs due to mutations in the ACADM gene, which leads to a […]
What Is Zika Virus?
What Is Zika Virus? The Zika virus, first identified in Uganda in 1947, is transmitted by Aedes mosquitoes, the same type of mosquito that carries dengue fever, yellow fever, and chikungunya virus. A mosquito bites an infected person and then passes those viruses to other people it bites. Outbreaks did not occur outside of Africa […]
What Is Absent Menstruation (Amenorrhea)?
What Is Absent Menstruation (Amenorrhea)? Amenorrhea is the absence of menstrual periods. It can mean either: A girl has not started her first period by age 15–16 (Primary Amenorrhea), or A woman who previously had periods stops bleeding for 3–6 months or more (Secondary Amenorrhea). Normal Situations Where Absence of Periods Is Expected Amenorrhea is […]
What Is Agenesis Of Corpus Callosum?
Overview Agenesis of corpus callosum (ACC) is a rare disorder that is present at birth (congenital). It is characterized by a partial or complete absence (agenesis) of an area of the brain that connects the two cerebral hemispheres. This part of the brain is normally composed of transverse fibers. The cause of agenesis of corpus […]
What is Adams-Oliver Syndrome?
Adams-Oliver Syndrome: Congenital Deficiency of Limbs, Cutis, and Calvaria Adams-Oliver Syndrome (AOS is a rare genetic condition that is characterized by congenital skull, scalp, and limb deformations. Symptoms vary between individuals — some are born with just a few defects, while others suffer from major physical abnormalities. What is Adams-Oliver Syndrome? Adams-Oliver Syndrome is an inborn condition affecting: […]
What Is Abercrombies Syndrome?
Abercrombie’s Syndrome: A Full-Service Overview What is Abercrombie’s Syndrome? Abercrombie’s Syndrome is a condition in which amyloid, a waxy, insoluble protein, accumulates among the cells and fibers of various tissues and organs. This abnormal protein builds up in connective tissue and the walls of small blood vessels, interfering with the structure and function of affected […]
What Is An Abdominal Wall Defect?
What Is an Abdominal Wall Defect? An abdominal wall defect is a problem with how a baby’s abdominal wall forms. Body parts such as the intestines, stomach, or liver can push through this opening and bulge out from the body. These anomalies are usually detected during prenatal ultrasound between the 10th and 14th week of […]
What Is Aase Syndrome?
What is Aase Syndrome: Causes, Symptoms, Treatment, Pictures, Diagnosis, Prognosis, Life Expectancy in Children and Infants Also called Aase-Smith Syndrome II, this condition was first described by doctors Jon Morton Aase and David Weyhe Smith in 1968. Definition Aase Syndrome (also known as Aase-Smith syndrome, type II) is a rare genetic condition mainly characterized by […]
What Is An Abdominal Migraine?
What is Abdominal Migraine? Abdominal migraine, a rare form of migraine, primarily affects children between the ages of 5 and 9 and rarely occurs in some adults. Whereas most migraines cause head pain, abdominal migraines cause intense stomach pain, usually around the navel (belly button), along with nausea, vomiting, and pallor. This syndrome is classified […]
What Is Aarskog Syndrome?
What Is Aarskog Syndrome? Aarskog Syndrome is a rare congenital abnormality that primarily affects males, although it can be present in a less severe form in females. It is inherited in an X-linked dominant manner and is due to mutations, most often in the X chromosome’s FGD1 gene, and is characterized by: Stature Facial features […]
What is Abdominal Pain?
What is Abdominal Pain? Abdominal pain is a sensation of pain in the area between the chest and the pelvis. This part of the body, commonly called the belly area, contains several key organs, including the stomach, liver, gallbladder, pancreas, small and large intestines, and spleen. At times, abdominal pain may be caused by nearby […]