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 |
Includes Duane anomaly, optic atrophy, 6th nerve palsy, tear duct hypoplasia, cataracts, nystagmus and glaucoma
Outside of newborn period