From the Guidelines
Children with Apert syndrome are at high risk for sleep-disordered breathing (SDB) due to craniofacial anomalies, and preoperative polysomnography (PSG) is recommended prior to tonsillectomy to optimize perioperative planning and improve diagnostic accuracy. Apert syndrome is a rare genetic disorder characterized by premature fusion of skull bones (craniosynostosis), midface hypoplasia, and fusion of fingers and toes (syndactyly) [ 1 ]. It occurs due to mutations in the FGFR2 gene, which affects normal bone development.
Key Considerations
- Craniofacial deformities in Apert syndrome lead to oropharyngeal and nasopharyngeal crowding and laryngeal abnormalities, increasing the risk of SDB [ 1 ].
- Preoperative PSG helps determine the severity of obstructive sleep apnea (OSA) and the need for postoperative oximetry and overnight monitoring [ 1 ].
- A multidisciplinary approach is necessary for treatment, involving surgical interventions to correct cranial deformities, hand surgeries to separate fused digits, orthodontic care, speech therapy, and management of potential breathing problems or sleep apnea.
Treatment and Management
- Surgical interventions to correct cranial deformities are typically performed within the first year of life to allow normal brain growth.
- Hand surgeries are usually done between ages 1-4 to separate fused digits and improve function.
- Additional treatments may include orthodontic care for dental issues, speech therapy, and management of potential breathing problems or sleep apnea.
- Intellectual development varies among affected individuals, with some experiencing developmental delays requiring educational support.
- Genetic counseling is important for families, as Apert syndrome is inherited in an autosomal dominant pattern, though many cases result from spontaneous mutations [ 1 ].
From the Research
Definition and Characteristics of Apert Syndrome
- Apert syndrome is a rare acro-cephalo-syndactyly syndrome characterized by craniosynostosis, severe syndactyly of hands and feet, and dysmorphic facial features 2, 3.
- It demonstrates autosomal dominant inheritance assigned to mutations in the fibroblast growth factor receptor gene, resulting in abnormal cranial sutures 2, 4.
- The syndrome can affect various functions such as hearing, visual abnormalities, swallowing, and writing, requiring a multidisciplinary approach for management 2.
Clinical Presentation and Diagnosis
- Physical appearance and dental examination of patients with Apert syndrome may include acrocephaly, prominent forehead, ocular hypertelorism, proptosis, short and broad nose, pseudo-prognathism, dental crowding and ectopia, maxillary hypoplasia, low hairline, webbed neck, pectus excavatum, and severe bilateral syndactyly of hands and feet 2.
- Prenatal diagnosis can be challenging, but genetic investigation and ultrasound can detect atypical cranial morphology and confirm the diagnosis 4.
- Early diagnosis is crucial for providing the best family counseling and prenatal management, and a multidisciplinary team should conduct these cases 4, 5.
Treatment and Management
- Untreated craniosynostosis can lead to inhibition of brain growth and increased intracranial and intraorbital pressure, emphasizing the importance of early surgical interventions 3, 5.
- Anesthetic management of craniosynostosis repair in patients with Apert syndrome requires careful consideration of difficult airway, airway hyper-reactivity, and potential raised intracranial pressure 6.
- A multidisciplinary approach is necessary for the management of Apert syndrome, including craniofacial reconstruction surgery, syndactyly release, and treatment of associated congenital anomalies 2, 3, 5, 6.