You are currently viewing Abdallat–Davis–Farrage syndrome‎ Medical Notes & Mindmap

Abdallat–Davis–Farrage syndrome is a form of phakomatosis, a disease of the central nervous system accompanied by skin abnormalities. It is characterized by the out of the ordinary pigment of the skin that is abnormal to one’s genetics or the color perceived on a basis. (Source : Wikipedia)

Abdallat–Davis–Farrage Syndrome‎ [MEDNOTES+MINDMAP]

  • Definition:
    • Rare genetic disorder characterized by abnormalities in the development of the brain and face, as well as abnormalities in the hands and feet.
  • Epidemiology:
    • Very rare, with only a few cases reported worldwide.
  • Natural history:
    • Symptoms usually present at birth, with intellectual disability and developmental delays being common.
    • Children with this condition may also have difficulty speaking, feeding, and moving.
  • Classification/Types/Stages:
    • No official classification or staging system for this condition.
    • Described in two types:
      • Type 1: More severe, presents with more severe abnormalities
      • Type 2: Less severe, presents with fewer abnormalities.
  • Risk Factors:
    • Genetic predisposition
    • Environmental factors (such as exposure to toxins or infections)
  • Etiology/Causes:
    • Mutations in the COL4A1 gene
    • Inherited in an autosomal recessive manner
  • Signs:
    • Abnormal kidney development
    • Poorly formed or absent kidneys
    • Abnormal brain development
    • Malformation of the brain and spinal cord
  • Symptoms:
    • High blood pressure
    • Protein in the urine
    • Swelling in the face, hands, and feet
    • Developmental delays
    • Seizures
    • Difficulty breathing
    • Kidney failure
    • Decreased urine output
    • Abnormal urine composition
    • Abnormal growth patterns
  • Pathology/Pathogenesis
    • Caused by a mutation in the PAM gene
    • Inherited in an autosomal recessive manner
  • Diagnosis/Laboratory Diagnosis
    • Clinical presentation and family history
    • Genetic testing to confirm the presence of a PAM gene mutation
  • Tests Required:
    • Genetic testing
    • MRI/CT scan
    • Electroencephalogram (EEG)
    • Blood tests (to rule out other conditions)
  • Associated with/Strongly Associated with:
    • Intellectual disability
    • Seizures
    • Microcephaly
    • Hypotonia
    • Developmental delays
    • Facial abnormalities (e.g. small head, wide-set eyes, upturned nose)
  • Similar diseases/syndromes:
    • Rett syndrome
    • Angelman syndrome
    • Prader-Willi syndrome
  • Treatment:
    • Antiepileptic medications to control seizures
    • Physical therapy to improve muscle strength and coordination
    • Speech therapy to improve communication skills
    • Occupational therapy to improve daily living skills
    • Educational support to address developmental delays
    • Genetic counseling to discuss inheritance and potential for future children with the syndrome

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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