You are currently viewing Apert Syndrome :‎ Medical Notes & Mindmap

Apert syndrome is a rare genetic condition that causes the fusing of several bones in the head, hands, and feet too early. These bone fusions can result in anomalies in the shape of the head and face, as well as delays in the development of the fingers and toes.

Apert syndrome is caused by a mutation in the FGFR2 gene, which is crucial for bone and tissue growth. This disease is present at birth and is estimated to afflict 1 in 65,000 to 88,000 people worldwide.

Apert Syndrome :‎ [MEDNOTES+MINDMAP]

  • Definition
    • Rare genetic disorder characterized by premature fusion of certain bones in the skull, hands, and feet
  • Epidemiology
    • Affects approximately 1 in 65,000 to 88,000 individuals worldwide
  • Natural history
    • Present at birth
    • Severity can vary widely from person to person
  • Risk Factors
    • Genetic mutations
  • Etiology/Causes
    • FGFR2 gene mutation
  • Signs
    • Abnormalities in the shape of the head and face
    • Fusion of bones in the skull, hands, and feet
  • Symptoms
    • Abnormal facial features
    • Difficulty with finger and toe movement
    • Vision and hearing problems
    • Intellectual disability (in some cases)
  • Pathology/Pathogenesis
    • FGFR2 gene mutation leads to abnormal development of bones and other tissues
    • Premature fusion of bones in the skull, hands, and feet
    • Abnormal facial features and other physical abnormalities can result from the abnormal bone development
  • Diagnosis
    • Physical examination
    • Genetic testing
  • Tests Required
    • X-rays
    • CT scan
    • MRI
  • Associated with
    • FGFR2 gene mutation
  • Similar diseases/syndromes
    • Crouzon syndrome
    • Pfeiffer syndrome
    • Saethre-Chotzen syndrome
  • Treatment
    • Surgery to correct craniofacial abnormalities and separate fused bones
    • Physical therapy to improve mobility and function
    • Orthopedic surgery to correct abnormalities in the fingers and toes
    • Orthodontic treatment to correct dental issues
    • Speech therapy to address any speech problems
    • Psychological support to help with the social and emotional effects of the condition

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