Table 2.

Disorders of Interest in the Differential Diagnosis of Branchiooculofacial Syndrome

Gene(s) / Genetic MechanismDisorderMOIFeatures of This Disorder
Overlapping with BOFSDistinguishing from BOFS
22q11.2 deletion 22q11.2 deletion syndrome AD
  • Eye abnormalities
  • Ear abnormalities
  • Branchial abnormalities
  • Renal abnormalities
  • Orofacial cleft
  • Cardiac defects common
  • No BOFS facial features
CHD7 CHD7 disorder (incl CHARGE syndrome)AD
  • Eye abnormalities
  • Ear abnormalities
  • Orofacial cleft
  • No skin defects
  • No premature gray hair
  • Frequent posterior segment coloboma & choanal atresia
  • No BOFS facial features
EDN3
EDNRB
KITLG
MITF
PAX3
SNAI2
SOX10
SOX10 		Waardenburg syndrome (See Waardenburg Syndrome Type I.)AD
AR
  • Premature graying of hair
  • Telecanthus
  • Hearing loss
  • No renal abnormalities
  • No BOFS facial features
EYA1
SIX5
SIX1 		Branchiootorenal spectrum disorder AD
  • Ear abnormalities
  • Branchial abnormalities
  • Renal abnormalities
  • Branchial pits (vs draining sinuses w/overlying skin defects in BOFS)
  • No BOFS facial features
TP63 Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (See TP63-Related Disorders.)AD
  • Orofacial cleft
  • Ectodermal abnormalities
  • Ectrodactyly
  • No BOFS facial features

AD = autosomal dominant; AR = autosomal recessive; BOFS = branchiooculofacial syndrome; MOI = mode of inheritance

From: Branchiooculofacial Syndrome

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