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Table 2 Frequency of different clinical features in individuals with FHS

From: The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Clinical feature

Frequency reported

Eyes

  • Strabismus

7/43

  • Hyperopia

5/43

  • Nystagmus

1/43

Ears

  • Recurrent otitis media/T-tube placement

6/52

  • Hearing loss

9/52

  • Cochlear anomaly

1/U

Other ENT

  • Cleft lip and pseudocleft lip

2/52

  • Velopharyngeal insufficiency

2/U

  • Choanal atresia

1/U

Dental Issues

  • Small teeth/increased spacing

13/38

  • Cavities

6/38

  • Malocclusion/underbite

3/38

Cardiac Malformation*

3/52

Gastrointestinal

  • Motility issues (reflux/constipation)

13/52

  • Colonic stricture

1/U

  • Celiac disease

2/52

Genitourinary

  • Cryptorchidism

5/24

  • Renal/collecting system anomalies

7/U

Seizures

6/52

Hypothyroidism

2/52

  1. U – denominator unknown.
  2. * Mild aortic coarctation, atrial septal defect, Tetrology of Fallot.