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Shprintzen-Goldberg syndrome

MeSH: C537328ORPHA: 2462

Contents

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

Overview

medical condition

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 Shprintzen-Goldberg syndrome, sourced from HPO and Orphanet clinical annotations.

Joint hypermobilityDolichocephalyRetrognathiaHypertelorismMicrognathiaPosteriorly rotated earsLow-set earsDownslanted palpebral fissuresTelecanthusProptosisArachnodactylyIntellectual disabilityHypotoniaPes planusHigh, narrow palateInguinal herniaHypoplasia of the maxillaHigh foreheadStrabismusPtosisPectus excavatumPectus carinatumCommunicating hydrocephalusCraniosynostosisUmbilical herniaMitral valve prolapseAbnormal aortic valve morphologyMitral regurgitationFrontal bossingScoliosisCamptodactyly of fingerCryptorchidismMicrocephalyConductive hearing impairmentProtruding earAnteverted naresMyopiaNarrow chestMissing ribsOsteopeniaAbnormal metaphysis morphologyHyperextensible skinJoint stiffnessFailure to thriveGastroesophageal refluxApneaVentriculomegalyChiari malformationGenu valgumElbow dislocationAbnormal form of the vertebral bodiesBowing of the long bonesAplasia/Hypoplasia of the abdominal wall musculature

Classification & Codes

MeSH Code

C537328

Orphanet Code

ORPHA:2462
Shprintzen-Goldberg syndrome
MeSHC537328
OrphanetORPHA:2462
Treatments0 drug(s)
Symptoms on record53 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO