Patient selection: possible CHARGE syndrome
Major criteria (4 C’s)
(1) coloboma (iris, choroid, retina, optic disc) or microphthalmia
(2) choanal atresia
(3) cranial nervie dysfunction (I with anosmia, VII with facial palsy, VIII with sensorineural deafness or vestibular problems, IX with swallowing problems, X with swallowing problems)
(4) characteristic external ears (absent or hypoplastic lobes, asymmetry, decreased cartilaginous folds, triangular concha), middle ear (malformed ossicles, chronic serous otitis), and inner ear anomalies (temporal bone findings with cochlear hypoplasia, hypoplastic/absent semicircular canals)
where:
• The criteria of Verloes refer to the 3 C’s.
Minor criteria:
(1) characteristic facial features
(2) congenital cardiovascular malformations
(3) tracheo-esophageal fistula
(4) growth deficiency
(5) genital hypoplasia (micropenis or cryptorchidism in male, hypoplastic labia in female, delayed or incomplete pubertal development in both)
(6) orofacial cleft (cleft lip and/or palate)
(7) developmental delay (delayd motor milestones, hypoptonia, mental retardation)
Occasional findings:
(1) thymic and/or parathyroid hypoplasia (including DiGeorge sequence without deletion of 22q11)
(2) renal anomalies
(3) hand anomalies
(4) webbed neck, sloping shoulders, nipple anomalies
(5) omphalocele or umbilical hernia (abdominal defect)
(6) spine anomalies (hemivertebrae, scoliosis)
Criteria for the diagnosis of CHARGE syndrome – one of the following:
(1) all 4 of the major criteria
(2) 3 major and at least 3 minor criteria
