Apert Syndrome
Apert Syndrome
Definition & Epidemiology
Apert syndrome (AS) is a rare genetic disorder characterized by craniosynostosis, midface hypoplasia, and syndactyly of hands and feet. Incidence: 1 in 65,000 to 160,000 live births.
Genetic Basis
- Autosomal dominant inheritance
- FGFR2 gene mutations (99% of cases)
- Ser252Trp (66% of cases)
- Pro253Arg (33% of cases)
- Usually occurs as new mutation (paternal age effect noted)
Key Clinical Features
Craniofacial (100%)
- Craniosynostosis (primarily coronal)
- Brachycephaly
- Midface hypoplasia
- Down-slanting palpebral fissures
- Hypertelorism
- Beaked nose
- High-arched palate or cleft palate
Limb Abnormalities (100%)
- Symmetric syndactyly hands/feet
- Complex syndactyly type II
- Broad thumbs and great toes
- Progressive synostosis of joints
Central Nervous System (>50%)
- Ventriculomegaly
- Corpus callosum anomalies
- Intellectual disability (variable)
- Seizures (10%)
Associated Features
- Hearing loss (conductive/sensorineural)
- Visual impairments
- Cardiac anomalies (10%)
- Acne (severe in adolescence)
- Hyperhidrosis
Diagnostic Approach
Clinical Diagnosis
- Based on characteristic triad:
- Craniosynostosis
- Midface hypoplasia
- Symmetric syndactyly
Confirmatory Testing
- Molecular genetic testing of FGFR2
- 3D CT scan for cranial assessment
- MRI brain for structural anomalies
- Skeletal survey
Differential Diagnosis
- Crouzon syndrome
- Pfeiffer syndrome
- Saethre-Chotzen syndrome
- Jackson-Weiss syndrome
Multidisciplinary Management
Early Intervention (0-2 years)
- Cranial vault expansion (6-12 months)
- Hand surgery for syndactyly release
- Airway management
- Sleep study if indicated
Ongoing Care
- Craniofacial team follow-up
- Ophthalmology monitoring
- Audiological assessment
- Dental/orthodontic care
- Neurodevelopmental support
- Physical/occupational therapy
Surgical Interventions
- Staged hand/foot procedures
- Midface advancement (Le Fort III)
- Monobloc advancement
- Dental procedures
Prognosis & Long-term Outcomes
Survival & Quality of Life
- Normal life expectancy with appropriate care
- Variable intellectual outcomes
- Successful integration possible with support
Monitoring Requirements
- Annual developmental assessment
- Regular vision/hearing checks
- Growth monitoring
- Psychological support
