Shprintzen omphalocele syndrome

Overview

Shprintzen omphalocele syndrome: A rare syndrome characterized mainly by abnormal development of the pharynx and larynx which can result in a narrowed airway. Protrusion of intestines through the belly button also occurs. The voice is high pitched and spinal curvature and learning problems are other common symptoms.

Symptoms

The list of signs and symptoms mentioned in various sources for Shprintzen omphalocele syndrome includes the 18 symptoms listed below: * Unusual facial appearance * Curved spine * Learning disability * Underdeveloped pharynx * Underdeveloped larynx * Narrowed airway * High pitched voice * Poor muscle tone * Imperforate anus * Webbed neck * Narrow shoulders * Abnormal esophageal function * Eyebrow anomaly * Mental retardation * Downturned mouth * Wide set eyes * Lordosis * Omphalocele Note that Shprintzen omphalocele syndrome symptoms usually refers to various symptoms known to a patient, but the phrase Shprintzen omphalocele syndrome signs may refer to those signs only noticable by a doctor.

Causes

Other Possible Causes of these Symptoms * Curved spine * Downturned mouth * High pitched voice * Learning disability * Lordosis * Mental retardation * Poor muscle tone * Unusual facial appearance * Webbed neck * Wide set eyes

Diagnosis

The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Shprintzen omphalocele syndrome. This medical information about signs and symptoms for Shprintzen omphalocele syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of Shprintzen omphalocele syndrome signs or Shprintzen omphalocele syndrome symptoms. Furthermore, signs and symptoms of Shprintzen omphalocele 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 Shprintzen omphalocele syndrome symptoms.