Orbital Telorism
Orbital Telorism - Overview
Orbital telorism refers to abnormal spacing between the orbits. Understanding these conditions is crucial for pediatricians as they can be important markers for underlying syndromes.
Key Points
- Hypertelorism: Increased interorbital distance
- Hypotelorism: Decreased interorbital distance
- Both conditions may indicate underlying developmental anomalies
- Early detection crucial for syndrome identification
Hypertelorism
Definition
True hypertelorism (orbital hypertelorism) is characterized by increased distance between the orbits with normal-sized globes.
Clinical Features
- Increased interpupillary distance (IPD)
- Broad nasal bridge
- Normal-sized globes in widely spaced orbits
- May have epicanthal folds
Associated Syndromes
- Frontonasal Dysplasia
- Anterior cranium bifidum
- Widow's peak
- Broad nasal root
- Apert Syndrome
- Craniosynostosis
- Syndactyly
- Midface hypoplasia
- Crouzon Syndrome
- Craniosynostosis
- Exophthalmos
- Midface hypoplasia
- Greig Cephalopolysyndactyly
- Polydactyly
- Macrocephaly
- Noonan Syndrome
- Ptosis
- Pulmonary stenosis
- Short stature
Hypotelorism
Definition
Hypotelorism is characterized by abnormally close spacing of the orbits, often associated with midline defects of the brain.
Clinical Features
- Decreased interpupillary distance
- Close-set eyes
- Narrow nasal bridge
- Often associated with microcephaly
Associated Conditions
- Holoprosencephaly Spectrum
- Alobar holoprosencephaly
- Semilobar holoprosencephaly
- Lobar holoprosencephaly
- Chromosomal Disorders
- Trisomy 13
- Deletion 18p syndrome
- Maternal Factors
- Maternal diabetes
- Alcohol exposure
- Severe hypocholesterolemia
Measurement & Assessment
Key Measurements
- Inner Canthal Distance (ICD)
- Normal range: 20-33 mm (adult)
- Measure between medial canthi
- Outer Canthal Distance (OCD)
- Normal range: 70-100 mm (adult)
- Measure between lateral canthi
- Interpupillary Distance (IPD)
- Newborn: 40-45 mm
- Adult: 55-65 mm
Assessment Tools
- Direct measurement with ruler
- Photography with scale
- 3D facial scanning
- CT/MRI for orbital measurements
Management Approach
Initial Evaluation
- Complete family history
- Detailed physical examination
- Developmental assessment
- Genetic consultation
Investigations
- Genetic testing
- Chromosomal analysis
- Targeted gene panels
- Whole exome sequencing if indicated
- Imaging
- CT scan for bony orbital assessment
- MRI for soft tissue and brain assessment
- 3D facial photography
Treatment Options
- Conservative Management
- Regular monitoring
- Vision assessment
- Developmental support
- Surgical Intervention
- Timing based on severity
- Usually delayed until skeletal maturity
- Multidisciplinary approach
