Aortic arch anomaly with peculiar facies and mental retardation

Synonyms

Familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism
Aortic arch anomaly-peculiar facies-intellectual disability syndrome

Overview

A very rare syndrome characterized by mental retardation, characteristic facial anomalies and abnormal position of the aorta.

Symptoms

  • Beaked nose
  • Dextroposition of aorta
  • Downslanted fissures
  • Downturned mouth
  • Asymmetrical facial structure
  • High forehead
  • High nasal bridge
  • Long ear
  • Large ear
  • Mental retardation
  • Small mouth
  • Multiple caries
  • Posterior angulation of ears
  • Triangular face
  • Vascular anomalies
  • Hypotonia
  • Small head
  • Prognathism
  • Coxa valga
  • Genu varum
  • Syndactyly of toes
  • Broad forehead
  • Carious teeth
  • Cognitive impairment
  • Convex nasal ridge
  • Downturned corners of mouth
  • Facial asymmetry
  • Low-set, posteriorly rotated ears
  • Macrotia
  • Narrow mouth
  • Overriding aorta
  • Prominent nasal bridge

Diagnosis

Home medical testing related to Aortic arch anomaly with peculiar facies and mental retardation:

  • Child Behavior: Home Testing o ADHD -- Home Testing o Concentration -- Home Testing
  • Mental Health (Adults): Home Testing o Adult ADHD -- Home Testing
  • High Blood Pressure: Home Testing o Home Blood Pressure Tests o Home Blood Pressure Monitors o Home Heart Tests
  • Heart Health: Home Testing: o Heart Rate Monitors o Irregular Heartbeat Detection o Heart Electrocardiogram (ECG) o Home Cholesterol Tests
  • Mental Health: Home Testing: o Home Emotional Stress Tests

Treatment

  • Cholesterol Specialists: * Clinical Lipidology (Cholesterol/Triglycerides) * Diabetes, Endocrinology & Metabolism
  • Cardiac (Heart) Specialists: * Cardiology (Heart specialists) * Pediatric Cardiology (Child Heart Specialists) * Cardiothoracic Surgery * Clinical Cardiac Electrophysiology * Interventional Cardiology
  • Mental Health Specialists: * Psychiatry (Mental Health) * Addiction Psychiatry * Geriatric Psychiatry (Seniors Mental Health) * Pediatric / Adolescent Psychiatry (Child/Teen Mental Health) * Pediatric Developmental Behavioral Health (Child Behavior Specialist) * Psychosomatic Medicine * Forensic Psychiatry

Resources

  • NIH