Definition Arthrogryposis, also known as arthrogryposis multiplex congenita or AMC, is a birth defect in which a child has various joints that are tight (contracted) with decreased motion, stiffness, deformity, and difficulty with function. The incidence for this is one in 3,000 live births. It is not a progressive disorder. …
Read More »Klippel-Trenaunay syndrome – Causes, Diagnosis and Treatment
Definition Klippel-Trenaunay syndrome (KTS) is a rare congenital malformation involving blood and lymph vessels and abnormal growth of soft and bone tissue. Typical symptoms include hemangiomas (abnormal benign growths on the skin consisting of masses of blood vessels) and varicose veins. Fused toes or fingers, or extra toes or fingers, …
Read More »Arteriovenous malformation- Overview, Causes and Treatment
Definition Arteriovenous malformation is a congenital disorder (present from birth) characterized by a complex, tangled web of arteries and veins in which there are a short circuit and high pressure due to arterial blood flowing rapidly in the veins. An AVM may occur in the brain, brainstem or spinal cord. …
Read More »Acrocallosal Syndrome – Causes, Symptoms and Treatment.
Definition Acrocallosal syndrome is a rare congenital disorder in which the individual has an absence or only partial formation of the corpus callosum. This is accompanied by a skull and facial malformations, and some degree of finger or toe malformations. Individuals may display motor and mental retardation. The cause of …
Read More »Microtia – Causes, Treatment, and Complications.
Description Microtia is a congenital deformity of the outer ear where the ear does not fully develop during the first trimester of pregnancy. The word “microtia” comes from the Latin words “micro” and “otia”, meaning “little ear.” Microtia ears can vary in appearance but are usually smaller in size, often …
Read More »Bicornuate Uterus- Definition, Causes and Treatment
Definition Bicornuate Uterus (also called heart-shaped uterus), is a congenital (present at birth) condition where the uterus has two cavities (spaces) instead of one large cavity. Most women with this condition don’t need surgery to repair it. A bicornuate uterus consists of two symmetric uterine horns unified by caudal fusion. …
Read More »Hydrocephalus- Definition, Pathophysiology, and Treatment.
Definition Hydrocephalus is a usually congenital condition in which an abnormal accumulation of cerebrospinal fluid in the cerebral ventricles causes enlargement of the skull and compression of an injury to brain tissue. If it becomes progressive, a shunt is surgically placed to reduce pressure by conducting fluid away from the …
Read More »Ptosis or Droopy Eye Lid: Risk Factors, Treatment and Prevention
Definition Ptosis is when the upper eyelid droops over the eye. The eyelid may droop just a little, or so much that it covers the pupil (the black dot at the center of your eye that lets light in). It can limit or even completely block normal vision. Children and …
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