CIPA Disease
Congenital insensitivity to pain with anhidrosis (CIPA) is characterized by the inability to perceive pain and temperature, as well as diminished or nonexistent sweating (anhidrosis). This disorder is also known…
Congenital insensitivity to pain with anhidrosis (CIPA) is characterized by the inability to perceive pain and temperature, as well as diminished or nonexistent sweating (anhidrosis). This disorder is also known…
Overview Cornelia de Lange syndrome (CdLS syndrome) is a congenital genetic disorder. Multiple physical, intellectual, and behavioral characteristics describe it. Children with CdLS typically have a low birth weight, diminutive…
Overview Nervous system cells are affected by an aberrant accumulation of galactolipids, a type of lipid. Krabbe disease is an uncommon hereditary disorder. In particular, the cells that create myelin…
MERRF syndrome (Myoclonic epilepsy with ragged-red fibers) is a condition that primarily affects the muscles and neurological system. In the majority of instances, this illness manifests throughout childhood or adolescence.…
Diamond-Blackfan syndrome or anemia (DBA) is an extremely uncommon blood illness that affects the bone marrow and inhibits the generation of red blood cells. It is a genetic condition caused…
Overview Russell Silver Syndrome (RSS) is an uncommon condition characterized by fetal growth retardation and postnatal growth deficit, in addition to a variety of other physical traits and symptoms. The…
PURA syndrome is a rare genetic disorder. The PURA gene is located on chromosome 5's long arm (at position 5q31.2). When one of a person's two copies of the PURA…
Grayson's Syndrome is a mitochondrial disorder that is highly uncommon. This illness, also known as Grayson Wilbrandt corneal dystrophy (GWCD), is one of the most uncommon kinds of corneal dystrophy,…
Overview The Klippel Trenaunay syndrome is an uncommon congenital disorder characterized by abnormal formation of blood vessels and/or lymph vessels. The syndrome is characterized by three features: a port-wine stain,…
Overview Olmsted syndrome is an uncommon congenital palmoplantar keratoderma that is finely circumscribed and progressive. These lesions are accompanied by reddish skin and joint deformities that cause restriction and spontaneous…
Overview of Menkes disease A faulty ATP7A gene causes Menkes disease, a hereditary genetic disorder. Menkes syndrome causes copper absorption deficiency. This results in arterial changes and degeneration of the…
XXYY syndrome is a chromosomal disorder defined by the presence of an extra X and Y chromosome in men and is associated with medical and behavioral issues. XXYY is a…
Treacher-Collins syndrome is also known as Lancaster disease or Franceschetti-Zwahlen-Klein syndrome. It is a rare genetic disorder manifested by the head's bony and soft tissue deformities, especially ears, orbit, facial…
What is Cloves Syndrome? CLOVES Syndrome is an acronym for Congenital, Lipomatous, Overgrowth, Vascular Malformations, Epidermal Nevi, and Spinal/Skeletal Anomalies and/or Scoliosis. Saap et al. and Alomari recognized the syndrome…
Prader-Willi syndrome Humans have 23 pairs of chromosomes that encode all genetic materials. In trisomy 15 there is an extra chromosome in the 15th pair. This extra chromosome causes a…