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What is Shprintzen omphalocele syndrome?

What is Shprintzen omphalocele syndrome?

  • 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.

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Shprintzen omphalocele syndrome as a "rare disease".
Source - Orphanet

Shprintzen omphalocele syndrome: Introduction

Types of Shprintzen omphalocele syndrome:

Broader types of Shprintzen omphalocele syndrome:

What causes Shprintzen omphalocele syndrome?

Causes of Shprintzen omphalocele syndrome: see causes of Shprintzen omphalocele syndrome

What are the symptoms of Shprintzen omphalocele syndrome?

Symptoms of Shprintzen omphalocele syndrome: see symptoms of Shprintzen omphalocele syndrome

Shprintzen omphalocele syndrome: Testing

Diagnostic testing: see tests for Shprintzen omphalocele syndrome.

Misdiagnosis: see misdiagnosis and Shprintzen omphalocele syndrome.

How is it treated?

Doctors and Medical Specialists for Shprintzen omphalocele syndrome: Neonatologist, Otolaryngologist ; see also doctors and medical specialists for Shprintzen omphalocele syndrome.
Treatments for Shprintzen omphalocele syndrome: see treatments for Shprintzen omphalocele syndrome

Name and Aliases of Shprintzen omphalocele syndrome

Main name of condition: Shprintzen omphalocele syndrome

Other names or spellings for Shprintzen omphalocele syndrome:

omphalocele with hypoplasia of pharynx and larynx, learning disability, dysmorphic facies and scoliosis, pharynx and larynx hypoplasia with omphalocele, Shprintzen-Goldberg omphalocele syndrome, Omphalocele, laryngeal and pharyngeal hypoplasia, learning disabilities, dysmorphic facies and spinal anomalies, Laryngeal and pharyngeal hypoplasia with omphalocele

 

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