Kaufman oculocerebrofacial syndrome

Overview

A rare syndrome characterized by a small head, narrow face, eye anomalies, severe mental retardation and long thin hands and feet. The disorder is recessively inherited.

Symptoms

* Severe mental retardation * Long thin hands * Long thin feet * Narrow face * Eye anomalies * Small head * Retarded fetal growth * Wide set eyes * Epicanthal folds * Droopy eyelids * Mongoloid eye slits * Small corneas * Pale optic discs * Sparse eyebrows * Flat upper lip groove * Reduced infant muscle tone * Small jaw * Infant respiratory distress * High palate * Narrow palate * Constipation * Delayed growth * Skin tags in front of ears * Short head * Flared nostrils * Nystagmus

Diagnosis

signs and symptoms of Kaufman oculocerebrofacial 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 Kaufman oculocerebrofacial syndrome symptoms.