Epigastric dwarfism (or dwarfism) is a group of rare inherited syndromes that are characterized by abnormal body size or structure and reduced functionality of the endocrine glands, especially the adrenal glands. These conditions are usually characterized by short limbs and a disproportionately large head or heart, as well as other signs of impaired development and body function. In this article we will look at adrenal dwarf, hypothyroid dwarf, and hormone deficiency dwarf.
Epigastric dwarfism
Epigastric dwarfism syndrome or epigastric dwarf syndrome (also known as epigastric dwarfism) is one of the inherited dwarfism syndromes that can result from various abnormalities in genes responsible for body development called homeobox-1B (HOXB1B). Misidentified or defective HOXB1 genes can lead to impaired limb growth and development, enlarged head size, rib cage deformities, and other signs of dwarfism. Patients present with a wide range of symptoms, including disproportionate growth and clinical manifestations of dwarfism, with a genetic predisposition to heart and bone disease.
Causes of epigastric dwarfism syndrome:
Homeobox-B gene defect Genital tract infection Exposure to toxic substances