congenital disorders

Overview of Goldenhar Syndrome Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum (OAVS), is a rare congenital disorder characterized by a wide range of developmental abnormalities that typically affect the face, ears, and spine. Named after the 19th-century German ophthalmologist Dr. Maurice Goldenhar, this condition is present at birth and can …

What is Micrognathia? Micrognathia is a condition where the jaw is undersized. It is also sometimes called “mandibular hypoplasia”. This condition is common during infancy. It however is usually self-correcting during growth with a gradual increase in the size of the mandible to normal size. Since the jaw size discrepancy …

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. …

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, …

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. …

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 …

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 …

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. …