1. Review of Otolaryngology related Pediatric Syndromes
David E. Karas MD
Connecticut Pediatric Otolaryngology
Yale New Haven Children’s Hospital
Yale School of Medicine

2. Disclosures
Speaker’s Bureau for Alcon

3. Syndromology Major Minor Significant functional or cosmetic impact
Heart defect, abnormal brain formation, cleft lip/palate
Minor
No major functional or cosmetic impact

4. Etiology Environmental (Teratogenic) Chromosomal Alcohol exposure
Single gene
Multiple gene

5. Patterns Sequence Syndrome Association
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

6. 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

7. 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

8. 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

9. 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

10. 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

11. 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

12. CHARGE Syndrome Coloboma Heart Anomalies Atresiae Chonae Retardation
Genital Anomalies
Ear Anomalies
~60% defect of CHD7 gene(chromosome 8)

13. 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
Vertebral (70%) Scoliosis later in life
Anal defects (55%)
Cardiac (75%) VSD/ASD/TOF
TE fistula (70%)
Renal (50%)
35% have a single umbilical artery
70% have radial defects frequently displaced or aplastic thumbs, polydactyly and syndactyly

14. 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

15. Kartagener’s Syndrome
Immotile Cilia
Situs Inversus
Sinusitis
Bronchitis/bronchiectasis
Otitis Media
Autosomal Recessive
Genetically heterogenous

16. Craniosynostosis Crouzon’s Apert’s Saethre-Chotzen Pfeiffer
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
crouzon’s
15% atretic canals
55% conductive hearing loss

17. 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