Chromosome 7- monosomy 7q21

Overview

A rare chromosomal disorder characterized by mental retardation, short stature, facial anomalies and muscle and distal limb abnormalities.

Symptoms

* Reduced muscle tone * Median ray abnormalities * Abnormal pigmentary skin changes * Abnormal antitragus * Mental retardation * Short stature * Short nose * Small nose * Small hand * Webbed toes * Depressed nasal bridge * Absent helix * Abnormal helix

Diagnosis

signs and symptoms of Chromosome 7, monosomy 7q21 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 7, monosomy 7q21 symptoms.

Resources

Chromosome 7, monosomy 7q21 is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Chromosome 7, monosomy 7q21, or a subtype of Chromosome 7, monosomy 7q21, affects less than 200,000 people in the US population. Source - National Institutes of Health (NIH)