Shprintzen Omphalocele Syndrome

Shprintzen omphalocele syndrome is an autosomal dominant disorder, which means you have a 50 percent chance of inheriting the syndrome if you have a parent with the defect. The disease was first outlined in 1979 by Dr. Robert Shprintzen. The syndrome is classified as rare and affects less than 1 in 2,000 people. Shprintzen serves as professor of otolaryngology and professor of pediatrics at Upstate Medical University in Syracuse, New York.

History

• In 1979, Shprintzen and Dr. Goldberg brought this autosomal (pertaining to nonsex related chromosomes) syndrome to the forefront based on a study of a father and his three daughters, one of whom died in infancy. The father had a voice that was high-pitched, and he had an irregular larynx. Other common symptoms were low IQ, respiratory difficulties, scoliosis, poor muscle tone and an abnormal pattern of the eyebrows. Other facial abnormalities include flared nostrils and irregularities of the upper eyelid.

Symptoms

• Sufferers of this rare syndrome often have atypical development of the larynx and pharynx and a substantially narrowed airway. Additional symptoms can include:
  • Omphalocele (opening at the naval with protrusion of intestines)
  • Abnormal function of the esophagus
  • Scoliosis
  • Lordosis (inward curvature of the spine)
  • Imperforate anus (anus is missing or in an incorrect position)
  • Unusual facial appearance (wide-set eyes, downturned mouth, abnormal eyebrows)
  • Learning disabilities
  • Mental retardation
  • Poor muscle tone
  • Webbed neck
  • High-pitched voice

Treatment

• Treatment for Shprintzen omphalocele syndrome is dependent on the severity and presentation of individual symptoms. Omphaloceles (a birth defect) are surgically corrected by fitting synthetic materials over the affected area. As time passes, the intestines are slowly moved back into the abdomen, at which time the synthetic material is removed and the skin is stitched closed. Imperforate anus, scoliosis and lordosis can all also be improved with medical intervention. Other symptoms may improve with physical therapy and special educational plans to deal with potential learning disabilities.

Other Names

• While the main name of the disorder is Shprintzen omphalocele syndrome, there are other names that refer to the same condition: Shprintzen-Goldberg omphalocele syndrome, dysmorphic facies and spinal anomalies, pharynx and larynx hypoplasia with omphalocele, laryngeal and pharyngeal hypoplasia with omphalocele, omphalocele with hypoplasia of the pharynx and larynx, and dysmorphic facies with scoliosis.

Support Groups

• It's crucial to connect with other people who can relate to what you're going through. Reaching out can help you to find guidance, advice and emotional support (see Resources). For additional support contact:
  National Organization for Rare Disorders
  Phone: [phone] or 203-744-0100
  Email: [email protected]
  Web: http://www.rarediseases.org

  Genetic Alliance
  Phone: [phone]
  Email: [email protected]
  Web: http://www.geneticalliance.org