You are currently viewing Abruzzo–Erickson Syndrome :‎ Medical Notes & Mindmap

Abruzzo-Erickson Syndrome, also known as Aarskog-Scott Syndrome, is a rare genetic disorder that affects the development of many parts of the body. It is caused by a mutation in the FGD1 gene, which provides instructions for making a protein called p21-Rho-associated coiled-coil forming protein kinase (PAK).

Abruzzo–Erickson Syndrome :‎ [MEDNOTES+MINDMAP]

  • Definition:

    • Rare genetic disorder
    • Characterized by intellectual disability, facial abnormalities, and short stature
  • Epidemiology:

    • Prevalence: unknown, but believed to be rare
    • Inheritance: autosomal recessive
  • Natural history:

    • Onset: present at birth
    • Progression:
      • Intellectual disability: severe, with limited to no functional speech
      • Facial abnormalities: underdeveloped or absent cheekbones, small jaw, small head
      • Short stature: common
  • Classification/Types/Stages:

    • Not formally classified due to rarity and limited information on progression
  • Risk Factors

    • Genetic mutations
    • Family history of the condition
  • Etiology/Causes

    • Mutations in the FGFR3 gene
  • Signs

    • Short stature
    • Small head size
    • Skeletal abnormalities
    • Delayed development
  • Symptoms

    • Intellectual disability
    • Speech delays
    • Difficulty with fine motor skills
    • Seizures
    • Vision problems
    • Heart defects
    • Kidney abnormalities
  • Pathology/Pathogenesis

    • A rare genetic disorder caused by a mutation in the TRPM1 gene
    • Affects the development and function of sensory neurons
    • Causes abnormalities in the eyes, ears, and central nervous system
    • Symptoms typically present at birth or in early infancy
  • Diagnosis/Laboratory Diagnosis

    • Diagnosed through genetic testing
    • Molecular genetic testing can confirm the presence of a TRPM1 gene mutation
    • Diagnosis can also be made through clinical evaluation of symptoms
  • Tests Required

    • Genetic testing to confirm TRPM1 gene mutation
    • Clinical evaluation of symptoms
  • Associated with/Strongly Associated with

    • Retinal degeneration
    • Hearing loss
    • Cognitive impairment
    • Seizures
    • Developmental delays
  • Similar diseases/syndromes

    • Usher syndrome
    • CHARGE syndrome
    • Deafblind hereditary sensory and autonomic neuropathy (HSAN)
  • Treatment

    • There is no cure for Abruzzo–Erickson Syndrome
    • Treatment is supportive and focused on managing symptoms
    • May include medications to control seizures, hearing aids, and adaptive devices for vision impairment
    • Early intervention programs and therapy can help with developmental delays and cognitive impairment.

Dr. Arin Nandi

Passionate About Medical Science & Helping Future Doctors Achieve Top Ranks In Medical Exams. He is professionally a dentist as well as a public health expert from JIPMER working in govt.health department
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