Tag: Early Diagnosis

  • Undescended Testicle

    Undescended Testicle

    Explore the critical insights on undescended testicle, or cryptorchidism, a common condition affecting newborn males. Learn about its causes, symptoms, diagnosis, treatment options, and potential complications if left untreated. Awareness and timely intervention are key to ensuring proper developmental outcomes for affected individuals.

  • RS, X-Linked

    RS, X-Linked: Definition and Description of RS, X-Linked: RS, X-Linked, commonly known as Rieger syndrome, is a genetic condition characterized by abnormalities in the development of the eyes, teeth, and other organs. This disorder is associated with mutations on the X chromosome, leading to a spectrum of developmental anomalies. Individuals with Rieger syndrome may display…

  • Premature Ovarian Failure

    Premature Ovarian Failure: Definition and Description of Premature Ovarian Failure: Premature Ovarian Failure (POF), also known as Primary Ovarian Insufficiency (POI), is a condition characterized by the loss of normal ovarian function before the age of 40. In this condition, the ovaries fail to produce adequate levels of hormones, particularly estrogen, and may also result…

  • Pompe Disease

    Pompe Disease: Definition and Description of Pompe Disease: Pompe Disease, also known as Glycogen Storage Disease Type II, is a rare genetic disorder that affects the body’s ability to break down glycogen—a stored form of sugar used as energy. This disorder is caused by a deficiency of the enzyme acid alpha-glucosidase, which leads to the…

  • Infantile Myoclonic Encephalopathy

    Infantile Myoclonic Encephalopathy Definition and Description of Infantile Myoclonic Encephalopathy Infantile Myoclonic Encephalopathy (IME) is a rare and serious neurological disorder that primarily affects infants and young children. It is characterized by recurring myoclonic jerks, which are sudden, involuntary muscle spasms. These jerks can involve the arms, legs, and face, leading to significant developmental delays…

  • Infantile Spinal Muscular Atrophy Type I

    Infantile Spinal Muscular Atrophy Type I Definition and Description of Infantile Spinal Muscular Atrophy Type I Infantile Spinal Muscular Atrophy Type I (SMA Type I) is a rare genetic disorder characterized by the progressive degeneration of the motor neurons in the spinal cord and brainstem. This leads to severe muscle weakness and atrophy, impacting the…

  • Hypoplastic Left Heart Syndrome (HLHS)

    Hypoplastic Left Heart Syndrome (HLHS) Definition and Description of Hypoplastic Left Heart Syndrome (HLHS) Hypoplastic Left Heart Syndrome (HLHS) is a critical congenital heart defect that affects normal blood flow through the heart. In this condition, the left side of the heart is underdeveloped, which includes structures such as the left ventricle, aorta, and mitral…

  • Hip Dysplasia, Congenital

    Hip Dysplasia, Congenital Definition and Description of Hip Dysplasia, Congenital Hip Dysplasia, Congenital is a medical condition characterized by an improper formation of the hip joint. This condition is primarily seen in infants and young children, where the socket of the hip joint is either too shallow or completely absent, leading to a loose hip…

  • Gangliosidosis GM2 Type 2

    Gangliosidosis GM2 Type 2 Definition and Description of Gangliosidosis GM2 Type 2 Gangliosidosis GM2 Type 2, also known as Tay-Sachs disease, is a genetic disorder that affects the body’s ability to break down certain fats known as gangliosides. This condition is caused by a deficiency in the enzyme Hexosaminidase A (Hex-A), which is essential for…

  • GALT Deficiency

    GALT Deficiency Definition and Description of GALT Deficiency GALT Deficiency, or Galactose-1-Phosphate Uridyltransferase Deficiency, is a rare genetic disorder that affects the body’s ability to metabolize galactose, a sugar found in milk and dairy products. This condition results from mutations in the GALT gene, which provides instructions for producing the GALT enzyme. Without adequate levels…