REVIEW OF OTOLARYNGOLOGY RELATED
PEDIATRIC SYNDROMESDavid E. Karas MD
Connecticut Pediatric OtolaryngologyYale New Haven Children’s Hospital
Yale School of Medicine
Disclosures Speaker’s Bureau for Alcon
Syndromology Major
Significant functional or cosmetic impact Heart defect, abnormal brain formation, cleft
lip/palate Minor
No major functional or cosmetic impact
Etiology Environmental (Teratogenic)
Alcohol exposure Chromosomal
Single gene Multiple gene
Patterns Sequence
Multiple defects from a single malformation Pierre Robin
Syndrome All components are pathologically related Trisomy 21 or Fetal Alcohol
Association Occur together more frequently VATER/VACTERL CHARGE
Branchio-Oto-Renal (Melnick-Fraser)
Branchial cleft sinuses Hearing Loss
Sensorineural but may be mixed Renal Dysplasia (12-20%) Autosomal Dominant
1 in 40,000 Births Variable penetrance Associatied with 8q Facial Palsy/Lacrimal duct
Treacher Collins (Mandibulofacial Dysostosis)
Autosomal Dominant 1 in 50,000 births 5q Abnormal structures of 1st and 2nd
Branchial arches, grooves and pouch. Small, absent, or low set ears Micrognathia Cleft Palate (35%) Normal Intelligence
Nagers(Acrofacial Dysostosis)
Malar Hypoplasia Down-slanting palpebral fissures Absence of lower eyelashes Atretic External Auditory Canals Conductive Hearing Loss Normal cognition and development Localization to 9q Limb abnormalities, particularly
absent thumbs
Velo-Cardio-Facial(Shprintzen)
High Arched/Cleft palate Broad nasal root Cognitive impairment Cardiac anomalies Velopharyngeal Insufficiency (VPI) Immunologic deficiencies 22q11 deficiency, Autosomal Dominant Feeding difficulties Hypocalcemia
Down’s Syndrome Trisomy 21 Stenotic ear canals/Low set ears COME/Eustachian tube dysfunction Middle ear anomalies Delayed Speech Obstructive Sleep Apnea Macroglossia Narrowed subglottis/trachea Cardiac defects
Mucopolysaccharidoses Lysosomal Storage Disease 7 distinct types Hurlers, Hunters, Sanfillipo Morquio, Maroteaux-Lamy Coarse facial features AIRWAY ISSUES!!!!! Obstructive Sleep Apnea Enzyme Replacement for
types I,II, and VI
CHARGE Syndrome Coloboma Heart Anomalies Atresiae Chonae Retardation Genital Anomalies Ear Anomalies ~60% defect of CHD7 gene(chromosome
8)
VATER(VACTERL) Association Vertebral Anomalies Anal Cardiac defects Tracheo-esophageal Fistula Renal/Radial anomalies Limb defects No specific genetic pattern or inheritance Incidence 16/100,000
Stickler’s Syndrome Midface Hypoplasia Cleft palate (Pierre Robin) Depressed Nasal Bridge Hearing Loss (15%) Dental Anomalies Mitral Valve Prolapse Genetic Sequencing is available Joint dysplasia/
hyperextensibilty
Kartagener’s Syndrome Immotile Cilia Situs Inversus Sinusitis Bronchitis/bronchiectasis Otitis Media Autosomal Recessive Genetically heterogenous
Craniosynostosis Crouzon’s
Midface hypoplasia, coronal suture synostosis Apert’s
Bicoronal synostosis, midface hypoplasia, orbital hypertelorism, polydactyly
Saethre-Chotzen Bilateral coronal synostosis , variable midface
hypoplasia, low set hairline , cleft palate Pfeiffer
Multiple types with synostosis and most with limb abnormalities
Syndromes More prevalent than you think Look for abnormalities minor
malformations may indicate that major ones may also exist
More than one family member may be affected
Identification should not be underestimated Better care Better counseling Better Surveillance