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Apert Syndrome Clinical Presentation

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


See the list below:

  • Family history is usually not significant because most cases of Apert syndrome are sporadic. A paternal age effect increases in fathers older than 50 years.
  • Headache and vomiting are signs of acute increased intracranial pressure, especially in cases of multiple suture involvement.
  • Stridor and sleep apnea indicate problems with the upper airway, resulting from craniosynostosis of sutures of the base of the skull.
  • Visual disturbance can result from corneal injury due to exposed conjunctivitis and keratitis.
  • Many patients exhibit mental retardation, although patients with normal intelligence have been reported.


Skull and face

With craniosynostosis, coronal sutures most commonly are involved, resulting in acrocephaly, brachycephaly, turribrachycephaly, flat occiput, and high prominent forehead.

A case of Apert syndrome, confirmed by molecular genetic analysis, was observed in a newborn infant who did not have craniosynostosis at birth. Because this disturbance in osteogenesis may vary in timing and extent, the diagnosis of Apert syndrome should be considered even in the absence of this hallmark finding.[7]

Other characteristics include the following:

  • Large late-closing fontanels are observed
  • A gaping midline defect is present
  • A rare cloverleaf skull anomaly is present in approximately 4% of infants
  • Common facial features during infancy include horizontal grooves above the supraorbital ridges that disappear with age, a break in the continuity of the eyebrows, and a trapezoid-shaped mouth at rest
  • A flattened, often asymmetrical face is observed
  • Maxillary hypoplasia with retruded midface is present

Ears, eyes, nose, and mouth

Patients have apparent low-set ears with occasional conductive hearing loss and congenital fixation of stapedial footplate.

Eyes exhibit down-slanting palpebral fissures, hypertelorism, shallow orbits, proptosis, exophthalmos, strabismus, amblyopia, optic atrophy, and, rarely, luxation of the eye globes, keratoconus, ectopic lentis, congenital glaucoma, lack of pigment in the fundi with occasional papilledema, and preventable visual loss or blindness.

A study by Forte et al found that in both Crouzon and Apert syndrome, the bony orbit is shortened, orbital and orbital soft-tissue volumes are reduced, and the globe’s volume is increased. In the study, which included 10 children with Apert syndrome, nine children with Crouzon syndrome, and 12 controls, the length of the bony orbit was 12% and 17% shorter in the Apert and Crouzon syndrome patients, respectively; the bony orbital volume was 21% and 23% smaller, respectively; the globe’s volume was 15% and 36% larger, respectively; and the orbital soft-tissue volume was 19% and 29% less, respectively.[8]

The nose has a markedly depressed nasal bridge. It is short and wide with a bulbous tip, parrot-beaked appearance, and choanal stenosis or atresia.

The mouth area has a prominent mandible, down-turned corners, high arched palate, bifid uvula, and cleft palate.

Orthodontic problems include crowded upper teeth, malocclusion, delayed dentition, ectopic eruption, shovel-shaped incisors, supernumerary teeth, V-shaped maxillary dental arch, bulging alveolar ridges, dentitio tarda, some impaction, partial eruption, idiopathic root resorption, transposition or other aberrations in the position of the tooth germs, and severe crowding.

Extremities and digits

The upper limbs are more severely affected than lower limbs. Coalition of distal phalanges and synonychia found in the hands is never present in the feet. The glenohumeral joint and proximal humerus are more severely affected than the pelvic girdle and femur. The elbow is much less severely involved than the proximal portion of the upper limb.

Syndactyly involves the hands and feet with partial-to-complete fusion of the digits, often involving second, third, and fourth digits. These are often termed mitten hands and sock feet. In severe cases, all digits are fused, with the palm deeply concave and cup-shaped and the sole supinated.

Characteristics also include the following:

  • Hitchhiker posture or radial deviation of short or broad thumbs results from abnormal proximal phalanx
  • Brachydactyly occurs
  • Nailbeds are contiguous (synonychia)
  • Some patients have subacromial dimples and elbow dimples during infancy
  • Mobility at the glenohumeral joint is limited with progressive limitation in abduction, forward flexion, and external rotation with growth
  • Limited elbow mobility is common with decreased elbow extension, flexion, pronation, and supination
  • Short humeri are a constant finding beyond infancy
  • Limited genu valga is present in many cases

Central nervous system

Intelligence varies from normal to mental deficiency, although a significant number of patients are mentally retarded. Malformations of the central nervous system (CNS) may be responsible for most cases.

Common CNS malformations include megalencephaly, agenesis of the corpus callosum, malformed limbic structures, variable ventriculomegaly, encephalocele, gyral abnormalities, hypoplastic cerebral white matter, pyramidal tract abnormalities, and heterotopic gray matter. In a study of 94 patients with Apert syndrome, Breik et al found the main CNS abnormalities to also include prominent convolutional markings (67%), a crowded foramen magnum (36%), and a deficient septum pellucidum (13%).[9] Progressive hydrocephalus is uncommon.

Papilledema and optic atrophy with loss of vision may be present in cases of subtle increased intracranial pressure.

Other skeletal and cartilaginous segmentation defects

These include the following:

  • Congenital cervical spinal fusion (68%), especially C5-C6
  • Aplasia or ankylosis of shoulder, elbow, and hip joints
  • Tracheal cartilage anomalies
  • Rhizomelia


Cutaneous characteristics include the following:

  • Hyperhidrosis (common)
  • Synonychia
  • Brittle nails
  • Acneiform lesions (frequent after adolescence)
  • Interruption of the eyebrows
  • Hypopigmentation
  • Hyperkeratosis in the plantar surface
  • Paronychial infections (more common in feet than hands and in patients who are institutionalized patients)
  • Excessive skin wrinkling of forehead
  • Skin dimples at knuckles, shoulders, and elbows

Cardiovascular (10%)

Cardiovascular characterstics include the following:


Genitourinary characteristics (9.6%) include the following:

  • Duplication of renal pelvis
  • Hydronephrosis
  • Stenosis of bladder neck
  • Bicornuate uterus
  • Vaginal atresia
  • Protuberant labia majora
  • Clitoromegaly


Gastrointestinal (GI) characteristics (1.5%) include the following:

  • Pyloric stenosis
  • Esophageal atresia and tracheoesophageal fistula
  • Ectopic or imperforate anus
  • Partial biliary atresia with agenesis of gallbladder


Respiratory characteristics (1.5%) include the following:

  • Anomalous tracheal cartilage
  • Tracheoesophageal fistula
  • Pulmonary aplasia
  • Absent right middle lobe of lung
  • Absent interlobular lung fissures


See the list below:

  • More than 98% of cases with Apert syndrome are caused by specific missense substitution mutations, involving adjacent amino acids (ie, Ser252Trp, Ser252Phe, Pro253Arg) in the linker between the second and third extracellular immunoglobulin domains of FGFR2, which maps to chromosome bands 10q26. The remaining cases are due to Alu-element insertion mutations in or near exon 9 of FGFR2.
  • Most cases are sporadic, resulting from new mutations with a paternal age effect. The incidence of FGFR2 mutations increases exponentially with paternal age, probably due to an increase in the frequency of these mutations and a selective advantage in the male germ line. [10, 11]
  • Most new mutations, estimated at 1 per 65,000 live births, imply that germline transversion rates at these 2 positions are currently the highest known in the human genome. The rarity of familial cases can be explained by reduced genetic fitness of individuals because of severe malformations and the presence of mental retardation in many cases.
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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