A rare chromosomal disorder involving the deletion of a portion of the short arm of chromosome 8. The symptoms are determined by the size and exact location of the deleted portion.
* Congenital heart disease * Diaphragmatic hernia * Developmental delay * Hyperactive behaviour * Impulsive behavior * Small head * Developmental delay * Auricular septal defect * Ventricular septal defect * Pulmonic stenosis
signs and symptoms of Chromosome 8, monosomy 8p23.1 may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Chromosome 8, monosomy 8p23.1 symptoms.
Chromosome 8, monosomy 8p23.1 is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Chromosome 8, monosomy 8p23.1, or a subtype of Chromosome 8, monosomy 8p23.1, affects less than 200,000 people in the US population. Source - National Institutes of Health (NIH)