Neurofaciodigitorenal syndrome

Overview

A very rare syndrome characterized mainly by: * Mental retardation * Abnormal EEG * Seizures * Grooved nose tip * Prominent forehead

Symptoms

The list of signs and symptoms mentioned in various sources for Neurofaciodigitorenal syndrome includes the 25 symptoms listed below: * Mental retardation * Abnormal EEG * Seizures * Grooved nose tip * Prominent forehead * Unusual ear shape * Short stature * Three bones in thumb * Short fingers * Telecanthus * Droopy eyelids * Broad toes * Congenital heart defects * Congenital kidney defects * Short head * Reduced muscle tone * Low set ears * Corneal abnormalities * Flat foot * Sunken chest * Flat upper lip groove * Flattened side of skull * Protruding jaw * Broad ends of fingers * Undescended testes

Diagnosis

Home medical testing related to Neurofaciodigitorenal syndrome: * Bladder & Urinary Health: Home Testing: o Home Bladder Tests o Home Urinary Tract Infection (UTI) Tests o Home Cystitis Tests o Home Kidney Tests o Home Urine Protein Tests (Kidney Function) o Home Prostate Cancer Tests * Kidney Health: Home Testing: o Home Microalbumin Tests (Kidney) o Home Urine Protein Tests (Kidney) o Home Urinary Tract Infection (UTI) Tests