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Ardalan–Shoja–Kiuru syndrome (ASKS) is a rare genetic disorder characterized by intellectual disability, developmental delay, and craniofacial and skeletal abnormalities.

The specific symptoms and severity of the disorder can vary widely among affected individuals. The disorder is caused by mutations in the FGF12 gene, and it is inherited in an autosomal recessive manner. It is rare disorder.

Ardalan–Shoja–Kiuru Syndrome :‎ [MEDNOTES+MINDMAP]

  • Definition:
    • A rare genetic disorder characterized by craniofacial anomalies, skeletal abnormalities, and intellectual disability.
  • Epidemiology:
    • The exact incidence and prevalence of Ardalan–Shoja–Kiuru Syndrome is not known, as it is a rare disorder.
    • It has been reported in individuals of Iranian and Finnish descent.
  • Natural history:
    • Individuals with Ardalan–Shoja–Kiuru Syndrome may have craniofacial anomalies such as a small head (microcephaly), a small jaw (micrognathia), and wide-set eyes (hypertelorism).
    • Skeletal abnormalities may include short fingers and toes (brachydactyly), and a curved spine (scoliosis).
    • Intellectual disability is also common in individuals with Ardalan–Shoja–Kiuru Syndrome, with varying degrees of severity.
  • Classification/Types/Stages:
    • It is classified as a genetic disorder, and there are no known subtypes or stages.
  • Risk Factors
    • Genetic predisposition
    • Unknown environmental factors
  • Etiology/Causes
    • Autosomal recessive genetic disorder caused by mutations in the KIF7 gene
  • Signs
    • Craniosynostosis (premature fusion of skull bones)
    • Skeletal abnormalities (including scoliosis, kyphosis, and short stature)
    • Congenital heart defects
  • Symptoms
    • Delays in motor development
    • Intellectual disability
    • Vision impairment
  • Pathology/Pathogenesis
    • KIF7 gene mutations result in abnormal development and function of the primary cilia, leading to improper signaling pathways and abnormal cell proliferation and differentiation in the developing brain and skeleton.
  • Diagnosis 
    • Genetic testing and analysis of specific genes (ARID1B, POGZ, and TAF4)
    • Clinical examination of symptoms and medical history
    • Differential diagnosis with other genetic disorders
  • Tests Required
    • DNA sequencing
    • Chromosomal microarray analysis
    • Genetic counseling
  • Associated with
    • Intellectual disability
    • Developmental delay
    • Seizures
    • Vision impairment
    • Hearing loss
    • Skeletal abnormalities
    • Cardiac defects
    • Gastrointestinal abnormalities
  • Similar diseases
    • Other genetic disorders with similar symptoms, such as Coffin-Siris syndrome and Smith-Magenis syndrome
  • Treatment
    • No specific treatment for ASKS, but management of symptoms and supportive care may include:
      • Physical therapy
      • Speech therapy
      • Occupational therapy
      • Special education services
      • Medications for seizures and other symptoms
      • Surgery for skeletal or cardiac defects.

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 department