Tag: rare conditions

  • Sucrose Intolerance

    Sucrose Intolerance: Definition and Description of Sucrose Intolerance: Sucrose intolerance is a rare condition characterized by an individual’s inability to properly digest sucrose, a common sugar found in many foods. Medically, it is often attributed to the deficiency of the enzyme sucrase-isomaltase, which is responsible for breaking down sucrose into glucose and fructose. When individuals…

  • Spinal Arachnoiditis

    Spinal Arachnoiditis: Definition and Description of Spinal Arachnoiditis: Spinal Arachnoiditis is a rare neurological condition characterized by inflammation of the arachnoid membrane, which surrounds the spinal cord. This inflammation can lead to adhesion formation and scarring in the spinal canal, resulting in pain and neurological dysfunction. The arachnoid membrane is one of the three protective…

  • Nail Patella Syndrome

    Nail Patella Syndrome: Definition and Description of Nail Patella Syndrome: Nail Patella Syndrome (NPS) is a rare genetic disorder characterized by abnormalities in the nails, bones, and kidneys. This condition is typically inherited in an autosomal dominant manner, which means only one copy of the mutated gene from an affected parent can cause the disorder…

  • LAM

    LAM Definition and Description of LAM Lymphangioleiomyomatosis (LAM) is a rare, progressive lung disease primarily affecting women of childbearing age. Characterized by the abnormal proliferation of smooth muscle-like cells in the lungs and sometimes in the lymphatic system, it leads to cystic destruction of lung tissue and impairments in pulmonary function. The exact etiology of…

  • Ectopia Cordis

    Ectopia Cordis Definition and Description of Ectopia Cordis Ectopia Cordis is a rare congenital defect in which the heart is partially or totally located outside of the thoracic cavity. This condition occurs during embryonic development, typically between the third and fourth week of gestation, when the chest wall fails to close properly. Ectopia Cordis can…

  • Cystic Hygroma

    Cystic Hygroma Definition and Description of Cystic Hygroma Cystic Hygroma is a fluid-filled sac that arises from the lymphatic system, most commonly found on the neck or head of infants and children. It appears as a soft, compressible mass and may vary in size. Medically, it is categorized as a type of lymphangioma, which is…

  • Classic Type Pfeiffer Syndrome

    Classic Type Pfeiffer Syndrome Definition and Description of Classic Type Pfeiffer Syndrome Classic Type Pfeiffer Syndrome is a congenital disorder characterized by the premature fusion of certain cranial sutures, leading to an abnormal head shape and facial features. This condition falls under the category of syndromic craniosynostosis and primarily affects the skull, resulting in a…

  • Bone Tumor-Epidermoid Cyst-Polyposis

    Bone Tumor-Epidermoid Cyst-Polyposis Definition and Description of Bone Tumor-Epidermoid Cyst-Polyposis Bone Tumor-Epidermoid Cyst-Polyposis is a rare condition that encompasses the presence of bone tumors alongside epidermoid cysts and polyps within the body. Bone tumors can be benign (non-cancerous) or malignant (cancerous), whereas epidermoid cysts are typically harmless, fluid-filled lumps on the skin, and polyposis refers…

  • Arhinencephaly

    Arhinencephaly Definition and Description of Arhinencephaly Arhinencephaly is a rare congenital malformation characterized by the absence of the olfactory bulbs and tracts, which are essential structures that connect the brain to the sense of smell. This condition is part of a spectrum of disorders known as neural tube defects. Arhinencephaly can be classified into two…