GTR Home > Conditions/Phenotypes > CHARGE association

Disease characteristics

Excerpted from the GeneReview: CHARGE Syndrome
CHARGE is a mnemonic for coloboma, heart defects, choanal atresia, retarded growth and development, genital abnormalities, and ear anomalies. CHARGE syndrome is characterized by the following: Unilateral or bilateral coloboma of the iris, retina-choroid, and/or disc with or without microphthalmos (80%-90% of individuals). Unilateral or bilateral choanal atresia or stenosis (50%-60%). Cranial nerve dysfunction resulting in hyposmia or anosmia, unilateral or bilateral facial palsy (40%), impaired hearing, and/or swallowing problems (70%-90%). Abnormal outer ears, ossicular malformations, Mondini defect of the cochlea and absent or hypoplastic semicircular canals (>90%). Cryptorchidism in males and hypogonadotrophic hypogonadism in both males and females. Developmental delay. Cardiovascular malformations (75%-85%). Growth deficiency (70%-80%). Orofacial clefts (15%-20%). Tracheoesophageal fistula (15%-20%) . Neonates with CHARGE syndrome often have multiple life-threatening medical conditions. Feeding difficulties are a major cause of morbidity in all age groups.

Associated genes

  • Also known as: CRG, HH5, IS3, KAL5, CHD7
    Summary: chromodomain helicase DNA binding protein 7

  • Also known as: M-SEMAH, M-SemaK, SEMAH, coll-5, SEMA3E
    Summary: sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E

Clinical features

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  • Umbilical hernia
  • Strabismus
  • Renal hypoplasia
  • Feeding difficulties
  • Renal agenesis
  • Respiratory insufficiency
  • Epicanthus
  • Square face
  • Vesicoureteral reflux
  • Narrow face
  • Delayed puberty
  • Intellectual disability
  • Labial hypoplasia
  • Microcephaly
  • Vertebral segmentation defect
  • Absent radius
  • Aplasia/Hypoplasia of the earlobes
  • Dysphagia
  • Intrauterine growth retardation
  • Anophthalmia
  • Cognitive impairment
  • Low-set, posteriorly rotated ears
  • Malar flattening
  • Ventricular septal defect
  • Microtia
  • Postnatal growth retardation
  • Downslanted palpebral fissures
  • Delayed eruption of teeth
  • Micrognathia
  • Lymphopenia
  • Nystagmus
  • Cleft palate
  • Feeding difficulties in infancy
  • Hypothyroidism
  • Aplasia/Hypoplasia of the thymus
  • Abnormality of female internal genitalia
  • Cryptorchidism
  • Hypogonadotrophic hypogonadism
  • Bifid scrotum
  • Micropenis
  • Abnormality of female external genitalia
  • Horseshoe kidney
  • Hydronephrosis
  • Narrow mouth
  • Oral cleft
  • Cleft upper lip
  • Hypertelorism
  • Facial asymmetry
  • Abnormality of the inner ear
  • Hearing impairment
  • Cupped ear
  • Preauricular skin tag
  • Lop ear
  • Overfolded helix
  • Mixed hearing impairment
  • Choanal atresia
  • Anosmia
  • Webbed neck
  • Retinal coloboma
  • Ptosis
  • Chorioretinal coloboma
  • Microphthalmos
  • Iris coloboma
  • Cleft eyelid
  • Lacrimation abnormality
  • Optic atrophy
  • Autism
  • Obsessive-compulsive behavior
  • Abnormality of the ribs
  • Growth hormone deficiency
  • Anterior hypopituitarism
  • Abnormality of the adrenal glands
  • Parathyroid hypoplasia
  • Abnormal palmar dermatoglyphics
  • Brachydactyly syndrome
  • Hand polydactyly
  • Split hand
  • Muscular hypotonia
  • Dandy-Walker malformation
  • Holoprosencephaly
  • Omphalocele
  • Polyhydramnios
  • Laryngomalacia
  • Defect in the atrial septum
  • Tetralogy of Fallot
  • Pulmonic stenosis
  • Patent ductus arteriosus
  • Abnormality of the aortic valve
  • Abnormality of the cardiac septa
  • Abnormality of the aorta
  • Double outlet right ventricle
  • Talipes
  • Anal atresia
  • Anal stenosis
  • Esophageal atresia
  • Arrhinencephaly
  • Duodenal atresia
  • Aqueductal stenosis
  • Highly arched eyebrow
  • Tracheoesophageal fistula
  • Scoliosis
  • Abnormality of the femur
  • Hypocalcemia
  • Hemivertebrae
  • Abnormality of the tibia
  • Hypoplasia of the ulna
  • Monodactyly (hands)
  • Clinodactyly of the 5th finger
  • Abnormality of bone mineral density
  • Abnormality of the nipple
  • Abnormality of the sense of smell
  • Posterior choanal atresia
  • Depressed nasal bridge
  • Attention deficit hyperactivity disorder
  • Aplasia/Hypoplasia of the cerebellum
  • Abnormality of the palpebral fissures
  • Aplasia/Hypoplasia affecting the eye
  • Gonadotropin deficiency
  • External ear malformation
  • Hypoplasia of penis
  • Short thumb
  • Bifid femur
  • Facial palsy
  • Cheekbone underdevelopment
  • Chin dimple
  • Abnormality of immune system physiology
  • Abnormal localization of kidney
  • Abnormality of the soft palate
  • Down-sloping shoulders
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