Chromosome 8 ring
Overview
A rare chromosomal disorder involving chromosome 8 which causes various abnormalities such as mental retardation, ureter anomalies, finger defects and facial dysmorphism.
Symptoms
* Reduced amniotic fluid * Sloping forehead * Anteverted nostrils * Curved fingers * Epicanthic folds * Round ear * Small nose * Prominent forehead * High forehead * High vaulted palate * Narrow palate * Low hair line at back of neck * Enlarged ureter * Hydronephrosis * Mental retardation * Ureter anomalies * Short nose
Diagnosis
signs and symptoms of Chromosome 8 ring 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 ring symptoms.
Resources
Chromosome 8 ring 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 ring, or a subtype of Chromosome 8 ring, affects less than 200,000 people in the US population. Source - National Institutes of Health (NIH) Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Chromosome 8 ring as a "rare disease". Source - Orphanet