eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Apert Syndrome: Treatment & Medication

Author: Harold Chen, MD, MS, FAAP, FACMG, Professor, Departments of Pediatrics, Obstetrics and Gynecology, and Pathology, Director of Genetic Laboratory Services, Louisiana State University Medical Center
Contributor Information and Disclosures

Updated: Sep 2, 2009

Treatment

Medical Care

  • Medical management of Apert syndrome includes the following19
    • Protection of the cornea
      • Instill lubricating bland ointments in the eyes at bedtime to protect corneas from desiccation
      • Artificial teardrops during the day
    • Upper airway obstruction during the neonatal period
      • Remove excessive nasal secretions
      • Treat upper airway infection
      • Humidification with added oxygen
      • Judicious use of topic nasal decongestants
    • Sleep apnea
      • Polysomography (a sleep recording of multiple physiologic variables), currently the most reliable method for determining the presence of sleep apnea
      • Continuous positive pressure
    • Chronic middle ear effusion associated with bilateral conductive hearing deficit - Antimicrobial therapy
    • Psychological and social challenges confronted by individuals with Apert syndrome
      • Emotional adjustment
      • Body image development
      • Impact of surgery and hospitalization on children with Apert syndrome

Surgical Care

  • Surgical management of Apert syndrome includes the following:
    • Protection of the cornea: Lateral or medial tarsorrhaphy is performed in severe cases to narrow the palpebral fissure cosmetically and to protect the corneas and the vision.
    • Upper airway obstruction during the neonatal period: This rarely requires orotracheal intubation.
    • Sleep apnea: Tracheostomy is indicated in severely affected children.
    • Chronic middle ear effusion associated with bilateral conductive hearing deficit: Bilateral myringotomy and placement of ventilation tubes are the most effective treatment.
    • Cranial surgery
      • Removes synostotic sutures
      • Reshapes the calvaria
      • Allows more normal cranial development to proceed with respect to shape, volume, and bone quality
      • Relieves increased intracranial pressure
    • Orbital surgery
      • Correction of ocular proptosis
      • Reduction of increased interorbital distance (hypertelorism)
      • Correction of increased interior malrotation
    • Nasal surgery
      • Infants and children: Nasal reconstruction focuses on correction of the excessively obtuse nasofrontal angle, flat nasal dorsum, and ptotic nasal tip.
      • Teenagers and adults: Reduction of the nasal tip bulk is indicated.
    • Midfacial surgery
      • Normalization of midface appearance
      • Expansion of the inferior orbit
      • Volumetric expansion of the nasal and nasopharyngeal airways
      • Establishment of a normal dentoskeletal relationship
    • Mandibular surgery: Mandibular osteotomies are performed to improve dentoskeletal relations for masticatory and aesthetic benefit.
  • Other surgical approaches
    • Surgical care involves early release of the coronal suture and fronto-orbital advancement and reshaping to reduce dysmorphic and unwanted skull growth changes. Craniosynostosis requires multistaged operative procedures. A significant cosmetic improvement is possible. Initial surgery is often performed as early as age 3 months.
    • Facial cosmetic reconstruction for dysmorphisms is indicated.
    • A new technique of craniofacial disjunction, followed by gradual bone distraction (Ilizarov procedure), has been reported to produce complete correction of exophthalmos and improvement in the functional and aesthetic aspects of the middle third of the face without the need for bone graft in patients aged 6-11 years.
    • Surgical separation of digits (mitten-glove syndactyly) provides relatively little functional improvement
    • Shunting procedure reduces intracranial pressure.
    • For orthodontic treatment, most patients require 2-jaw surgery (bilateral sagittal split osteotomy with mandibular setback and distraction in the maxilla). During the period of distraction, the orthodontist guides the maxilla into final position using bite planes and intermaxillary elastics.

Consultations

  • Neurosurgeon
  • Plastic surgeon
  • Oromaxillofacial surgeon
  • Craniofacial anesthesiologist
  • Radiologist
  • Otorhinolaryngologist
  • Orthodontist
  • Dentist
  • Orthopedist
  • Ophthalmologist
  • Clinical geneticist
  • Developmental pediatrician
  • Neurologist
  • Psychiatrist
  • Psychologist
  • Audiologist
  • Speech pathologist
  • Physical and occupational therapy specialist

Diet

  • No special diet is required.

Activity

  • No restriction of activity is required.

Medication

  • Medication is not currently a component of care in patients with Apert syndrome. See Treatment.

More on Apert Syndrome

Overview: Apert Syndrome
Differential Diagnoses & Workup: Apert Syndrome
Treatment & Medication: Apert Syndrome
Follow-up: Apert Syndrome
Multimedia: Apert Syndrome
References
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References

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Further Reading

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Keywords

acrocephalosyndactyly Apert type, acrocephalosyndactyly type I, type I acrocephalosyndactyly, Apert's syndrome, typical acrocephalosyndactyly, autosomal dominant disorder, craniosynostosis, craniofacial anomalies, symmetrical syndactyly, cutaneous and bony fusion of hands and feet, Apert syndrome, craniostenosis, sleep apnea, cor pulmonale, stridor, conjunctivitis, keratitis, acrocephaly, brachycephaly, turribrachycephaly, flat occiput, down-slanting palpebral fissures, hypertelorism, shallow orbits, proptosis, exophthalmos, strabismus, amblyopia, optic atrophy, luxation of the eye globes, keratoconus, ectopic lentis, congenital glaucoma

crowded upper teeth, malocclusion, delayed dentition, ectopic eruption, shovel-shaped incisors, supernumerary teeth, V-shaped maxillary dental arch, bulging alveolar ridges, dentitio tarda, partial eruption, idiopathic root resorption, megalencephaly, agenesis of the corpus callosum, malformed limbic structures, variable ventriculomegaly, encephalocele, gyral abnormalities, hypoplastic cerebral white matter, pyramidal tract abnormalities, heterotopic gray matter, progressive hydrocephalus, atrial septal defect, patent ductus arteriosus, ventricular septal defect, pulmonary stenosis, tetralogy of Fallot, treatment, diagnosis

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Contributor Information and Disclosures

Author

Harold Chen, MD, MS, FAAP, FACMG, Professor, Departments of Pediatrics, Obstetrics and Gynecology, and Pathology, Director of Genetic Laboratory Services, Louisiana State University Medical Center
Harold Chen, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American Medical Association, American Society of Human Genetics, and Teratology Society
Disclosure: Nothing to disclose.

Medical Editor

James Bowman, MD, Senior Scholar of Maclean Center for Clinical Medical Ethics, Professor Emeritus, Department of Pathology, University of Chicago
James Bowman, MD is a member of the following medical societies: Alpha Omega Alpha, American Society for Clinical Pathology, American Society of Human Genetics, Central Society for Clinical Research, and College of American Pathologists
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Hagop Youssoufian, MD, MSc, Vice President of Clinical Research, ImClone Systems Incorporated
Hagop Youssoufian, MD, MSc is a member of the following medical societies: American Society for Clinical Investigation, American Society of Clinical Oncology, American Society of Hematology, and American Society of Human Genetics
Disclosure: Nothing to disclose.

CME Editor

Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System
Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

 
 
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