Tag: congenital condition

  • Symmastia

    Symmastia: Definition and Description of Symmastia: Symmastia is a rare congenital condition characterized by the fusion of the breasts across the midline of the chest. Unlike normal anatomical development, where breasts are separate and well-defined, individuals with symmastia exhibit a contiguous breast tissue that may extend from one side of the chest to the other.…

  • Syndactylic Oxycephaly

    Syndactylic Oxycephaly: Definition and Description of Syndactylic Oxycephaly: Syndactylic Oxycephaly is a rare congenital condition characterized by the fusion of the fingers and/or toes (syndactyly) alongside craniosynostosis, which is the premature fusion of skull bones. This condition can result in distinctive facial features and abnormalities in head shape due to altered cranial and facial growth.…

  • Jejunal Atresia

    Jejunal Atresia Definition and Description of Jejunal Atresia Jejunal Atresia is a congenital condition characterized by the absence or closure of a segment of the jejunum, which is part of the small intestine. This condition can result in significant digestive issues as it prevents the normal passage of food through the gastrointestinal tract. Jejunal Atresia…

  • EHBA

    EHBA Definition and Description of EHBA EHBA, or Extrahepatic Bile Duct Atresia, is a congenital condition characterized by the obstruction or absence of the bile ducts outside the liver. This condition prevents bile from being drained from the liver into the intestine, leading to bile accumulation and subsequent liver damage. EHBA is primarily diagnosed in…

  • Craniosynostosis

    Craniosynostosis Definition and Description of Craniosynostosis Craniosynostosis is a congenital condition characterized by the premature fusion of one or more cranial sutures—the fibrous joints connecting the bones of a baby’s skull. When these sutures close too early, it can restrict skull growth and result in an abnormal head shape. As the brain continues to grow,…

  • CMTC

    CMTC Definition and Description of CMTC CMTC, or Cutis Marmorata Telangiectatica Congenita, is a rare vascular malformation characterized by a distinctive lacy or mottled appearance of the skin. It often presents at birth or shortly thereafter and manifests as a persistent, bluish or purplish discoloration due to dilated blood vessels. This congenital condition can affect…

  • Biliary Atresia, Extrahepatic

    Biliary Atresia, Extrahepatic Definition and Description of Biliary Atresia, Extrahepatic Biliary Atresia, Extrahepatic is a rare but serious congenital condition that affects the bile ducts outside the liver. In this condition, the bile ducts become obstructed or destroyed, preventing bile from being transported from the liver to the small intestine. This leads to bile accumulation…

  • Arnold-Chiari Malformation

    Arnold-Chiari Malformation Definition and Description of Arnold-Chiari Malformation Arnold-Chiari Malformation (ACM) is a congenital neurological disorder characterized by the displacement of the brain tissue into the spinal canal. Specifically, it occurs when the cerebellum, the part of the brain responsible for coordination and balance, descends through the foramen magnum—the opening at the base of the…