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Abruzzo–Erickson syndrome

MeSH: C535559ORPHA: 921

Contents

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

Overview

human disease

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 Abruzzo–Erickson syndrome, sourced from HPO and Orphanet clinical annotations.

CryptorchidismHypospadiasAbnormal palate morphologyCleft palateMalar flatteningEpicanthusMacrotiaConductive hearing impairmentSensorineural hearing impairmentMicrocorneaChorioretinal colobomaColobomaIris colobomaBrachydactylyAtrial septal defectToe syndactylyShort toeRadioulnar synostosisShort statureCoronal hypospadiasUlnar deviation of fingerDimple chinFlat faceAbnormal localization of kidney

Classification & Codes

MeSH Code

C535559

Orphanet Code

ORPHA:921
Abruzzo–Erickson syndrome
MeSHC535559
OrphanetORPHA:921
Treatments0 drug(s)
Symptoms on record24 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO