Medical Care

Medical management of Apert syndrome includes the following:^[25]

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.^[32]

A study by Chetty et al indicated that in children with Apert syndrome, the position and orientation of the orbital region can be improved using Le Fort III facial advancement with subcranial bipartition and distraction. The study cohort’s patients underwent the procedure at mean age 10 years (average follow-up, 7.3 years). The investigators reported that the negative inclination of the palpebral fissures normalized, with preoperative and postoperative inclinations being 10.7° and 7.0°, respectively, for the right eye, and 12.4° and 8.7°, respectively, for the left eye. Moreover, the interpupillary distance was significantly reduced, with the outer-canthal distance ratio decreasing from 0.717 preoperatively to 0.699 postoperatively. Intercanthal distance did not significantly change.^[33]

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.^[34]

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

Diet

See the list below:

No special diet is required.

Activity

See the list below:

No restriction of activity is required.

Medication

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Media Gallery

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.
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 (right image) is provided for comparison. Similar abnormalities were also seen in the left hand (not shown).
Radiographs of both feet in the same child as in the previous images, at age 1 month, showed 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.
Magnetic resonance images of the brain obtained at in the same patient as in the previous images, at age 16 months, 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).
A 17-month-old boy with Apert syndrome. Three-dimensional (3-D) CT imaging of the head showed craniosynostosis of the coronal suture and a hypoplastic midface.
Axial facial CT scans in the same patient as in the previous image showed bilateral shallowed orbits with proptosis and mild hypertelorism. Crowding of the teeth was present.
Radiograph of bilateral hands in the same patient as in the previous images, at age 18 months, showed bilateral syndactyly involving the second through fifth digits, with absent distal phalanges. Bilateral shortened hypoplastic middle phalanges are present, with bony fusion at the third and fourth middle phalanges, along with deformities of the proximal phalanges and shortened metacarpals.
Radiograph of bilateral feet in the same patient as in the previous images, at age 7 years, showed syndactyly with diffuse deformities and multiple midfoot and hindfoot tarsal coalitions.
Three-dimensional facial CT scans in the same child as in the previous images, at age 9 years, showed hypoplastic midfacial bones.