Blake基準（原因遺伝子同定前に策定されたもの）

Major Characteristics

Ocular coloboma Coloboma of the iris, retina, choroid, disc; microphthalmos
Choanal atresia or stenosis 1, 2 Unilateral/bilateral: bony or membranous atresia/stenosis

Cranial nerve dysfunction or anomaly

 I: hyposmia or anosmia
VII: facial palsy (unilateral or bilateral)
VIII: hypoplasia of auditory nerve
IX/X: swallowing problems with aspiration
Characteristic CHARGE syndrome ear

Minor Characteristics

Genital hypoplasia

 Males: micropenis, cryptorchidismFemales: hypoplastic labia
Males and females: delayed puberty secondary to hypogonadotropic hypogonadism
Developmental delay  Delayed milestones, hypotonia
Cardiovascular malformation Including conotruncal defects (e.g., tetralogy of Fallot), AV canal defects, and aortic arch anomalies
Growth deficiency Short stature, usually postnatal with or without growth hormone deficiency
Orofacial cleft Cleft lip and/or palate
Tracheoesophageal (TE) fistula TE defects of all types

Distinctive facial features

 Square face with broad prominent forehead, prominent nasal bridge and columella, flat midface

 

Definite CHARGE syndrome : Four major characteristics or three major and three minor characteristics

Probable/possible CHARGE syndrome : one or two major characteristics and several minor characteristics

 

診断基準（本研究班による改定案）

下記の必発症状を有する症例のうち、大症状２以上または大症状１+小症状２を有する症例をCHARGE 症候群と診断

必発症状

  1. 耳介奇形を伴う両側性難聴
  2. 低身長
  3. 発達遅滞

大症状

  1. 眼コロボーマ（種類を問わない）
  2. 「後鼻孔閉鎖または口蓋裂」
  3. 顔面神経麻痺または非対称な顔

小症状

  1. 心奇形
  2. 食道気管支奇形
  3. 矮小陰茎または停留精巣（男児）または小陰唇低形成（女児）