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aplasia cutis-myopia syndrome

MeSH: C563394ORPHA: 1117

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 aplasia cutis-myopia syndrome, sourced from HPO and Orphanet clinical annotations.

Abnormality of the skeletal systemAplasia cutis congenitaMeningitisCalvarial skull defectAbnormal bleedingAbnormality of coagulationCongenital nystagmusAbnormal retinal pigmentationHigh myopiaAbnormal nervous system morphologySkin ulcer

Classification & Codes

MeSH Code

C563394

Orphanet Code

ORPHA:1117
aplasia cutis-myopia syndrome
MeSHC563394
OrphanetORPHA:1117
Treatments0 drug(s)
Symptoms on record11 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO