OrphanDrug
OrphanDrug
Pharma Knowledge Base

omphalocele syndrome, Shprintzen-Goldberg type

MeSH: C537329ORPHA: 3164

Contents

  1. 1. Available Treatments
  2. 2. Clinical Presentation
  3. 3. Classification & Codes

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with omphalocele syndrome, Shprintzen-Goldberg type, sourced from HPO and Orphanet clinical annotations.

Thin upper lip vermilionWebbed neckDownslanted palpebral fissuresAbnormal eyelash morphologyTelecanthusHypotoniaGlobal developmental delayOmphaloceleAbnormally high-pitched voiceShort columellaGastroesophageal refluxAnal atresiaChronic diarrheaNeonatal respiratory distressScoliosisDownturned corners of mouthSparse lateral eyebrowAnteroposteriorly shortened larynxLaryngeal hypoplasiaFeeding difficulties in infancyHypoplasia of the pharynx

Classification & Codes

MeSH Code

C537329

Orphanet Code

ORPHA:3164
omphalocele syndrome, Shprintzen-Goldberg type
MeSHC537329
OrphanetORPHA:3164
Treatments0 drug(s)
Symptoms on record21 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
omphalocele syndrome, Shprintzen-Goldberg type | OrphanDrug