Total 94 clinical symptoms reported for CHARGE syndrome
| Abnormal cranial nerve morphology |
Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.
Synonyms:Abnormality of cranial nerve; Abnormality of the cranial nerves; Cranial nerve disease; Cranial nerve involvement |
Very frequent |
| Abnormal pinna morphology |
An abnormality of the pinna, which is also referred to as the auricle or external ear.
Synonyms:Abnormal form of ears; Abnormally shaped ears; Auricular malformation; Deformed auricles; Deformed ears; Dysplastic ears; Malformation of auricle; Malformed auricles; Malformed ears; Malformed external ears; Minor malformation of the auricles; Poorly defined conchae |
Very frequent |
| Abnormality of the inner ear |
An abnormality of the inner ear.
Synonyms:Abnormality of the inner ear; Inner ear abnormality |
Very frequent |
| Anosmia |
An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.
Synonyms:Loss of smell; Lost smell |
Very frequent |
| Aplasia/Hypoplasia of the earlobes |
Absence or underdevelopment of the ear lobes.
Synonyms:Absent/small ear lobes; Absent/underdeveloped ear lobes |
Very frequent |
| Coloboma |
A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.
Synonyms:Notched pupil; Ocular coloboma; Ocular colobomas |
Very frequent |
| Cryptorchidism |
Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
Synonyms:Cryptorchism; Undescended testes; Undescended testis |
Very frequent |
| Delayed puberty |
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
Synonyms:Delayed pubertal development; Delayed pubertal growth; Delayed puberty; Pubertal delay |
Very frequent |
| Feeding difficulties in infancy |
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
|
Very frequent |
| Global developmental delay |
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Synonyms:Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development |
Very frequent |
| Hearing impairment |
A decreased magnitude of the sensory perception of sound.
Synonyms:Deafness; Hearing defect; Hearing impairment; Hypacusis |
Very frequent |
| Hypogonadotropic hypogonadism |
Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).
Synonyms:Hypogonadotrophic hypogonadism; Low gonadotropins (secondary hypogonadism) |
Very frequent |
| Hypoplasia of the semicircular canal |
Underdevelopment of the semicircular canal.
Synonyms:Small semicircular canal |
Very frequent |
| Iris coloboma |
A coloboma of the iris.
Synonyms:Cat eye; Coloboma of iris; Coloboma of the iris; Keyhole iris |
Very frequent |
| Micropenis |
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Synonyms:Short penis; Small penis |
Very frequent |
| Overfolded helix |
A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.
Synonyms:Over-folded helices; Overfolded ears; Overfolded helices |
Very frequent |