Craniofacial disharmony

Disease Description (Causes and Symptoms)

• Definition: Craniofacial dysharmony is a general term for conditions in which the skull and facial bones develop abnormally, affecting the shape and function of the head and face. Depending on the cause, it is classified as congenital (hereditary mutations or syndromic) or acquired (deformational pressure at birth or positional deformation).
• Summary of pathophysiology:
  • Premature fusion of one or more cranial sutures (craniosynostosis) can cause abnormal skull shape, potentially resulting in restricted brain growth and increased intracranial pressure.
  • Positional plagiocephaly is a deformation of the head caused by external pressure or positioning without suture fusion, and differs from structural closure of the cranial sutures.
  • Deformities of the facial bones can cause functional problems involving tooth alignment and chewing, speech, and breathing (sleep apnea).
• Main symptoms:
  • Asymmetrical or abnormal head shape (trigonocephaly, scaphocephaly, brachycephaly, etc.)
  • Feeding difficulties, or delayed speech or language development
  • Visual or hearing abnormalities, facial asymmetry (one side of the jaw or face being smaller or larger)
  • Associated symptoms: cleft lip and palate, hydrocephalus, congenital heart defects, etc. (in syndromic cases)

Treatment Methods and Precautions

• After diagnosis, conservative or surgical treatment is determined according to the cause and severity.
• Conservative treatment
  • Positional correction (frequently changing the direction in which the baby lies), physical therapy (particularly when torticollis is present)
  • Custom helmet (cranial orthosis): usually most effective when started between 4 and 12 months of age; the generally recommended wearing time is approximately 20 hours per day. Effectiveness decreases after 12 months of age.
  • Precautions when using a helmet: skin pressure, tearing, redness, sweating, and hair loss may occur → check the skin several times a day, maintain cleanliness, and have the helmet adjusted if necessary
• Surgical treatment
  • In cases of craniosynostosis, initial surgery is generally performed around 1 year of age (cranioplasty or endoscopic suture release combined with helmet therapy, etc.). Complex or syndromic cases may require staged surgeries (a second surgery before elementary school and final correction after puberty, etc.).
  • Facial skeletal reconstruction: the timing and method are determined according to facial asymmetry and breathing or chewing problems.
  • Surgical complications: bleeding, infection, anesthesia-related risks, and the possibility of repeat surgery.
• Medication and supportive treatment
  • Antibiotics to prevent infection before and after surgery, and medications for pain control.
  • Early intervention for developmental delays or language problems (speech therapy, occupational therapy, and assistive devices).
• A multidisciplinary approach is recommended: collaboration among pediatric neurosurgery, plastic surgery, dentistry (oral and maxillofacial), genetics, ophthalmology, otolaryngology, and rehabilitation medicine (physical and speech therapy) is necessary.
• Complications and precautions
  • Untreated severe craniosynostosis: may cause increased intracranial pressure, impaired brain development, and reduced visual or cognitive function → early diagnosis and treatment are important
  • Skin problems while wearing a helmet or excessive removal of the helmet (failure to comply with the recommended wearing time) may reduce treatment effectiveness
  • In syndromic patients, the possibility of other associated abnormalities (cardiac, neurological, hearing-related, etc.) should be considered

Outpatient Visit Checklist (Including Suggested Items to Bring and Example Questions)

• Items to bring (recommended)
  • List of currently used medications (for infants and young children, including medications administered by the parents and emergency medications)
  • Previous medical and surgical records (if available)
  • Copies of previous imaging (CT, X-rays, 3D photographs) and test results
  • Head circumference records (growth chart), and photographs showing when the deformity began and how it has progressed (from multiple angles and at different times)
  • Notes about feeding and sleep patterns, language development, and motor development
• Points for reviewing medical history and symptoms
  • When the deformity began and how it has progressed (whether it is gradually worsening), and whether the head tilts only to one side
  • Limited neck movement or tilting only to one side (torticollis)
  • Feeding difficulties, vomiting, developmental delay, seizures, difficulty breathing/snoring, etc.
  • Family history (similar deformities or genetic diseases)
• Guidance on basic examinations that may be performed during an outpatient visit
  • Physical examination (palpation of the cranial sutures, facial asymmetry, and basic assessment of vision and hearing)
  • If necessary, 3D head photographs, low-dose CT (to check the sutures), ophthalmologic and hearing tests, and genetic testing may be recommended

Examples of General Questions to Ask the Doctor

• How can we distinguish whether this condition is positional (deformational) or true craniosynostosis?
• What additional tests do you recommend (CT, genetic testing, ophthalmologic and hearing evaluations)? Why?
• What are the advantages and disadvantages of the treatment options (helmet versus surgery), and when do you recommend starting them?
• If surgery is necessary, when is it expected to be performed, what method will be used, and what are the complications and recovery period?
• What is the long-term prognosis (cognitive, visual, and language development)?

Examples of Condition-Specific Questions

• How can you accurately determine whether the baby's head deformity is positional plagiocephaly or craniosynostosis? (Please explain the necessary tests and palpation findings.)
• If helmet therapy is recommended, when should it be started, and how many hours per day and for how long should the helmet be worn? What should we do if skin problems develop?

(Note: The diagnosis and treatment plan vary depending on the individual patient's age, degree of deformity, and presence or absence of comorbidities. A multidisciplinary decision should be made after detailed consultation with a specialist during an outpatient visit.)