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Apert Syndrome Treatment & Management

  • Author: Harold Chen, MD, MS, FAAP, FACMG; Chief Editor: Maria Descartes, MD  more...
Updated: Apr 05, 2016

Medical Care

Medical management of Apert syndrome includes the following:[21]

  • 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.

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.[28]

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.[29]



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


See the list below:

  • No special diet is required.


See the list below:

  • No restriction of activity is required.
Contributor Information and Disclosures

Harold Chen, MD, MS, FAAP, FACMG Professor, Department of Pediatrics, Louisiana State University Medical Center

Harold Chen, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics

Disclosure: Nothing to disclose.


Grace W Guo, MD Staff Radiologist, Department of Medical Imaging, Alfred I duPont Hospital for Children, Nemours Childrens Health System

Grace W Guo, MD is a member of the following medical societies: American College of Radiology, American Medical Association, Radiological Society of North America, Society for Pediatric Radiology

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Additional Contributors

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 and Translational Research, College of American Pathologists

Disclosure: Nothing to disclose.

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An infant with Apert syndrome is shown. Note the characteristic ocular hypertelorism, down-slanting palpebral fissures, proptotic eyes, horizontal groove above the supraorbital ridge, break of the eyebrows' continuity, depressed nasal bridge, and short, wide nose with bulbous tip.
Note the mitten appearance of the hands with syndactyly involving the second, third, fourth, and fifth fingers. This patient also has characteristic concave palms, hitchhiker posture (radial deviation) of the short broad thumbs, and contiguous nail beds (synonychia).
Note the socklike appearance of the feet with syndactyly involving the second, third, fourth, and fifth toes. The patient also has contiguous nail beds (synonychia).
In this profile photo, turribrachycephaly (high prominent forehead), proptosis, a depressed nasal bridge, a short nose, and low-set ears are prominent.
This radiograph demonstrates turribrachycephaly, shallow orbits, ocular hypertelorism, and a hypoplastic maxilla.
Note the osseous syndactyly involving the second, third, fourth, and fifth fingers; multiple synostosis involving the distal phalanges and proximal fourth and fifth metacarpals; symphalangism of the interphalangeal joints; shortening and radial deviation of the distal phalanx; and the delta-shaped deformity of proximal phalanx of the thumbs.
Note the osseous syndactyly, fusion of the interphalangeal joints, synostosis involving the proximal first and second metatarsals, and the partially duplicated and delta-shaped proximal phalanx of the great toes.
A 9-month-old girl was seen because of syndactyly of the hands and feet as well as associated with craniofacial anomalies. The family and pregnancy histories were noncontributory. The child had broad thumbs with 2-5 digits with cutaneous syndactyly (only the right hand is shown here). The feet were characterized by brachydactyly and syndactyly of 2-5 toes. Genomic DNA analysis showed a heterozygous C-to-G mutation at nucleotide 755 of the fibroblast growth factor receptor 2 (FGFR2) gene (c.755C>G) that changes a codon for serine (TCG) to that for tryptophan (TGG) at amino acid position 252 (p.Ser252Trp). This mutation is diagnostic for Apert syndrome. Image courtesy of Grace W Guo, MD.
The right hand radiograph for the same patient in the previous image at age 15 months (left image) showed soft-tissue fusion between the second through fourth digits as well as fusion of the proximal soft tissues between the fourth and fifth digits. Hypoplastic, deformed phalanges were present with fusion of the proximal and middle phalanges of the second through fourth digits. Bony fusion was also seen at the bases of the fourth and fifth metacarpals along with fusion of the capitate and hamate. The thumb pointed laterally with a sharp angulation at the first metacarpophalangeal joint. A right hand radiograph from the child at age 1 month of age (right image) is provided for comparison. Similar abnormalities were also seen in the left hand (not shown). Image courtesy of Grace W Guo, MD.
Radiographs of both feet in the same child as in the previous images at age 1 month show foreshortening of the bilateral second metatarsals, the right third proximal phalanx and left fourth phalanx, and the distal phalanges of the left second, third, fourth, and fifth digits. Both great toes are bulbous and foreshortened, with deformed phalanges and partially duplicated metatarsals. Soft-tissue fusion was present in the second through fifth digits of both feet. Image courtesy of Grace W Guo, MD.
Magnetic resonance images of the brain obtained at in the same patient as in the previous slides at age 16 months of showed hypoplasia of the parieto-occipital white matter, with undulating bilateral lateral ventricle occipital horns (arrow; left image). Shallow orbits can be appreciated bilaterally with ocular hypertelorism (right image). Image courtesy of Grace W Guo, MD.
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