Zadik-Barak-Levin Syndrome
Zadik-Barak-Levin Syndrome
Zadik-Barak-Levin syndrome is a rare genetic disorder characterized by a distinct combination of skeletal abnormalities, facial dysmorphism, and developmental delays. First described in 1985 by Zadik, Barak, and Levin, this syndrome presents unique diagnostic and management challenges for pediatricians.
Key Points
- Autosomal recessive inheritance pattern with variable expressivity
- Primarily affects skeletal and craniofacial development
- Presents in early infancy with distinctive facial features
- Associated with significant developmental delays
Clinical Manifestations
Craniofacial Features
- Prominent forehead with frontal bossing
- Hypertelorism with downslanting palpebral fissures
- Broad nasal bridge and anteverted nares
- Micrognathia with high-arched palate
- Low-set, posteriorly rotated ears
Skeletal Abnormalities
- Delayed bone age with abnormal metaphyseal modeling
- Vertebral anomalies including platyspondyly
- Short stature with disproportionate limb lengths
- Joint hypermobility and ligamentous laxity
Developmental Features
- Global developmental delay affecting motor and cognitive domains
- Speech delay with variable severity
- Fine and gross motor skill impairment
- Social interaction difficulties
Diagnostic Approach
Clinical Assessment
- Detailed family history and pedigree analysis
- Comprehensive physical examination focusing on dysmorphic features
- Growth parameter monitoring and developmental assessment
- Neurological evaluation
Radiological Investigations
- Skeletal survey including spine, pelvis, and long bones
- Cranial MRI to evaluate brain structure
- Hand-wrist radiographs for bone age assessment
Genetic Testing
- Chromosomal microarray analysis
- Whole exome sequencing for variant identification
- Genetic counseling for family planning
Treatment and Management
Multidisciplinary Approach
- Regular monitoring by pediatric geneticist
- Orthopedic follow-up for skeletal issues
- Physical therapy for motor development
- Speech and language therapy
- Occupational therapy for daily living skills
Preventive Care
- Regular dental evaluations
- Vision and hearing assessments
- Growth monitoring
- Immunization schedule adherence
Family Support
- Genetic counseling for family planning
- Parent support groups and resources
- Educational planning and advocacy
- Social service coordination
