David E. Karas MD
Connecticut Pediatric Otolaryngology
Yale New Haven Children’s Hospital
Yale School of Medicine
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Speaker’s Bureau for Alcon
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Major
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Significant functional or cosmetic impact
 Heart defect, abnormal brain formation, cleft lip/palate
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Minor
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No major functional or cosmetic impact
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Environmental (Teratogenic)
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Alcohol exposure
Chromosomal
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Single gene
Multiple gene
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Sequence
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Syndrome
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Multiple defects from a single malformation
Pierre Robin
All components are pathologically related
Trisomy 21 or Fetal Alcohol
Association
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Occur together more frequently
VATER/VACTERL
CHARGE
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Branchial cleft sinuses
Hearing Loss
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Renal Dysplasia (12-20%)
Autosomal Dominant
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Sensorineural but may be mixed
1 in 40,000 Births
Variable penetrance
Associatied with 8q
Facial Palsy/Lacrimal duct
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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
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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
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absent thumbs
High Arched/Cleft palate
 Broad nasal root
 Cognitive impairment
 Cardiac anomalies
 Velopharyngeal Insufficiency (VPI)
 Immunologic deficiencies
 22q11 deficiency, Autosomal Dominant
 Feeding difficulties
 Hypocalcemia
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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
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Lysosomal Storage Disease
7 distinct types
Hurlers, Hunters, Sanfillipo
Morquio, Maroteaux-Lamy
Coarse facial features
AIRWAY ISSUES!!!!!
Obstructive Sleep Apnea
Enzyme Replacement for
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types I,II, and VI
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Coloboma
Heart Anomalies
Atresiae Chonae
Retardation
Genital Anomalies
Ear Anomalies
~60% defect of CHD7 gene(chromosome 8)
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Vertebral Anomalies
Anal
Cardiac defects
Tracheo-esophageal Fistula
Renal/Radial anomalies
Limb defects
No specific genetic pattern or inheritance
Incidence 16/100,000
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Midface Hypoplasia
Cleft palate (Pierre Robin)
Depressed Nasal Bridge
Hearing Loss (15%)
Dental Anomalies
Mitral Valve Prolapse
Genetic Sequencing is available
Joint dysplasia/
hyperextensibilty
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Immotile Cilia
Situs Inversus
Sinusitis
Bronchitis/bronchiectasis
Otitis Media
Autosomal Recessive
Genetically heterogenous
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Crouzon’s
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Apert’s
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Bicoronal synostosis, midface hypoplasia, orbital
hypertelorism, polydactyly
Saethre-Chotzen
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Midface hypoplasia, coronal suture synostosis
Bilateral coronal synostosis , variable midface
hypoplasia, low set hairline , cleft palate
Pfeiffer
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Multiple types with synostosis
and most with limb abnormalities
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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
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Better care
Better counseling
Better Surveillance