Apert Syndrome Treatment & Management

Updated: Aug 21, 2018
  • Author: Harold Chen, MD, MS, FAAP, FACMG; Chief Editor: Maria Descartes, MD  more...
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Treatment

Medical Care

Medical management of Apert syndrome includes the following: [24]

  • 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

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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.

Reconstructive procedures should be correlated with facial growth and development. Although fronto-orbital advancement and posterior vault correction, if necessary, can be accomplished before age 1 year, monobloc advancement and facial bipartition should not be performed until age 6 or 7 years. When performing monobloc and facial bipartition with distraction, it is particularly instructive to pay attention to facial asymmetry and curvature, as facial bending with these procedures allows for amelioration of the flattened face. To correct occlusion, a Le Fort I procedure with or without sagittal split of the mandible may be necessary at the end of facial growth. All of these reconstructive procedures play an important role in enhancing self-confidence and social integration, making the overall psychological outlook good for patients with Apert syndrome. [31]

A study by Goldstein et al comparing complications of midfacial distraction osteogenesis using halo-type versus semiburied devices found a higher rate of operative repositioning in patients with the halo-type distractor, as a result of malposition or transcranial pin migration. However, patients with semiburied distractors experienced a higher rate of major infections. [32]

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Consultations

See the list below:

  • 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

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Diet

See the list below:

  • No special diet is required.

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Activity

See the list below:

  • No restriction of activity is required.

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