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Genoa syndrome

MeSH: C537684ORPHA: 2163

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 Genoa syndrome, sourced from HPO and Orphanet clinical annotations.

BrachycephalyMicrocephalyEpicanthusFacial asymmetryStrabismusUpslanted palpebral fissureHypotelorismBrachydactylyHypotoniaPlagiocephalyHoloprosencephalyCraniosynostosisCoxa valgaDelayed skeletal maturationClinodactyly of the 5th fingerShort statureAbnormal retinal pigmentationHypoplastic vertebral bodiesShort distal phalanx of fingerShort palpebral fissureCognitive impairment

Classification & Codes

MeSH Code

C537684

Orphanet Code

ORPHA:2163
Genoa syndrome
MeSHC537684
OrphanetORPHA:2163
Treatments0 drug(s)
Symptoms on record21 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO