A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
* Reduced muscle tone * Low-set ears * High forehead * Mental retardation * Seizures * Downslanted fissures * Paresis of eye muscles * Large gap between 1st and 2nd toes * Ear cartilage deficiency * Prominent forehead * Genu valgum * High vaulted palate * Narrow palate * Hyperextensible joints * Dry skin * EEG abnormality * Squint * Short limbs * Spindle shaped fingers * Auricular septal defect * Obesity * Umbilical hernia * Ureteric anomalies * Short stature * Anteverted nostrils * Long thin fingers * Beaked nose * Infant feeding problems * Wide set eyes * Large ear * Droopy eyelids * Undescended testes * Abnormal tooth positions * Posterior angulation of ears * Hypospadias * Curved fifth finger * Epicanthic folds * Claw hand * Downturned mouth * Downslanted eye fissures * Clubfoot * Speech defect * Nystagmus * Small teeth * Night blindness * Myopia * Broad alveolar ridge * Ureter abnormalities * Abnormal dermatoglyphics
The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Ampola syndrome. This medical information about signs and symptoms for Ampola syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of Ampola syndrome signs or Ampola syndrome symptoms. Furthermore, signs and symptoms of Ampola syndrome 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 Ampola syndrome symptoms.