eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Apert Syndrome: Follow-up

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

Follow-up

Further Inpatient Care

  • Admit patients with Apert syndrome for surgical intervention.
  • Tracheostomy may be necessary for airway management.

Further Outpatient Care

  • Carefully monitor postoperative complications.

Transfer

  • Transfer may be indicated for further diagnostic evaluation and surgical intervention.

Complications

  • Potential eye or brain injury
  • Wound infections
  • Leakage of cerebrospinal fluid or meningocele formation
  • Increased intracranial pressure and hydrocephalus
  • Airway obstruction, respiratory insufficiency, and sleep apnea

Prognosis

  • Prognosis largely depends on the age at operation. Craniosynostosis can result in brain compression and mental retardation unless relieved by early craniectomy. Innovations in craniofacial surgery have enabled children with Apert syndrome to achieve their full potential by maximizing their opportunities for intellectual growth, physical competence, and social acceptance; however, early surgical treatment of craniosynostosis may not alter intellectual outcome.
  • Prognosis depends on associated brain malformations. Malformations of the corpus callosum and size of the ventricles appear to play no role in the final intelligence quotient (IQ) score, though malformations of septum pellucidum have a significant effect.
  • Quality of the family environment is another factor involved in intellectual achievement. Only 12.5% of children with Apert syndrome who are institutionalized reach a normal IQ score, compared with 39.3% of children from a healthy family background.

Patient Education

Miscellaneous

Medicolegal Pitfalls

  • Failure to perform early craniectomy
  • Failure to correct hand and foot deformities
  • Failure to provide adequate genetic counseling and offer prenatal diagnosis20

Special Concerns

  • Genetic counseling19
    • A negligible risk for Apert syndrome is noted in siblings of affected individuals when parents are not affected, except in the case of germinal mosaicism; in this case, the risk in future siblings depends on the proportion of germ cells that bear the mutant allele.21
    • A 50% risk for Apert syndrome is present in the siblings of an affected individual if a parent is also affected.
    • A 50% risk for Apert syndrome is observed in offspring of an affected individual.
    • Advanced paternal age effect in new mutations has been shown clinically and demonstrated conclusively at the molecular level.
  • Prenatal diagnosis19
    • Despite the striking physical features seen in newborns with Apert syndrome, de novo cases are often not diagnosed prenatally, or are only identified in the third-trimester.17,18
    • Prenatal ultrasonographic diagnosis can be made based on findings of acrocephaly, mittenlike hands, and proximally placed and radially deviated thumbs.22  CNS malformations such as mild ventriculomegaly and agenesis of corpus callosum may be visible in some fetuses with Apert syndrome before the pathognomonic skeletal changes are revealed. The abnormal cranial shape and orbital hypertelorism may be absent or very subtle in the second trimester of pregnancy, becoming obvious only in the third trimester. However, Apert syndrome can be accurately suspected in the second trimester by careful ultrasonographic examination of the fetus, including the extremities and skull shape using 3-dimensional ultrasonography.
    • Use of 3-dimensional ultrasonography to demonstrate the fetal abnormalities (eg, premature closure of the coronal suture; a wide metopic suture; abnormalities of the hands, feet, and face) is particularly useful in parental counseling.23
    • If the molecular defect has been identified in the affected parent, prenatal molecular diagnosis can be achieved by direct DNA testing on fetal DNA obtained from amniocentesis or chronic villus sampling (CVS). In general, linkage analysis can be considered if a mutation has not been detected in the affected parent (although >98% of patients with Apert syndrome tested so far have FGFR2 mutations) and at least 2 affected relatives are available.
    • The abnormal sonographic findings with a high suspicion of Apert syndrome should be confirmed by detection of a mutation in the FGFR2 gene. Two mutations, S252W C → G and P253R C → G are found in 98% of patients.24
    • Fetoscopy to visualize fetal anomalies comparable to Apert syndrome in a pregnancy at risk is an invasive procedure and is not currently used.
 


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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