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atrioventricular defect-blepharophimosis-radial and anal defect syndrome

MeSH: C563994ORPHA: 1352

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 atrioventricular defect-blepharophimosis-radial and anal defect syndrome, sourced from HPO and Orphanet clinical annotations.

Abnormality of the genitourinary systemMicrocephalyMicrognathiaHearing abnormalityCupped earWide nasal bridgeStrabismusMicrophthalmiaBlepharophimosisUpslanted palpebral fissureOcular albinismMyoclonusIntrauterine growth retardationAnteriorly placed anusAbnormal cardiac septum morphologyAnal atresiaHypoplasia of the ulnaAbsent radiusClinodactyly of the 5th fingerMicrotiaAplasia/Hypoplasia of the thumbAplasia of the 1st metacarpal

Classification & Codes

MeSH Code

C563994

Orphanet Code

ORPHA:1352
atrioventricular defect-blepharophimosis-radial and anal defect syndrome
MeSHC563994
OrphanetORPHA:1352
Treatments0 drug(s)
Symptoms on record22 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO