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. Author manuscript; available in PMC: 2010 Aug 1.
Published in final edited form as: Am J Med Genet A. 2009 Aug;149A(8):1712–1721. doi: 10.1002/ajmg.a.32957

Table III. Medical issues most commonly reported in individuals with Emanuel syndrome.

Category Issue Percentage
Vision/Ocular Myopia 38
Strabismus 33
Astigmatism 13
Ptosis 8
Hyperopia 7
Other1 22
Hearing Loss Any degree 72
 Mild to moderate 56
 Moderate to severe 28
 Severe to profound 15
Dentition Delayed eruption of primary teeth 80
Misaligned teeth 56
Crowded teeth 37
Missing teeth 22
Gastrointestinal Drooling 74
Constipation 63
Failure to thrive 62
Choking and/or swallowing problems 54
Gastroesophageal reflux 54
Respiratory Recurrent chest infections 48
Aspiration 37
Snoring 32
Cough 27
Supplemental oxygen2 18
Musculoskeletal Ankle instability 48
Hip subluxation or dislocation 47
Scoliosis 32
 Requiring surgery 5
 Requiring bracing 42
Kyphosis 30
Joint contractures 15
Torticollis 15
Immunity Recurrent ear infections 96
Recurrent pneumonia 47
Recurrent sinusitis 33
Recurrent urinary tract infection 18
Recurrent oral candidiasis 11
Low immunoglobulins 19
 Treated with IVIG 9
1

Includes Duane anomaly, optic atrophy, 6th nerve palsy, tear duct hypoplasia, cataracts, nystagmus and glaucoma

2

Outside of newborn period