CHARGE syndrome- signs and symptoms

CHARGE syndrome- signs and symptoms

Signs and symptoms in CHARGE syndrome

Signs and symptoms derive from the six major features of the disease: coloboma, heart defects, atresia of nasal choanae mental retardation, genital and urinary abnormalities, ear abnormalities and deafness, which may be milder or more severe from case to case. Coloboma of the eye, which is a fissure of the posterior segments of the eye such as retina, optic disc, (rarely iris is affected),  is present in most patients with CHARGE syndrome (about 80%). Other defects of the eye that may be present are microphthalmia (small eyes), anophthalmia (eyes missing) or nystagmus. Complications can be retinal detachment and blindness.

Heart defects are also present in most patients with CHARGE syndrome and can be life threatening if not surgically corrected in time. Most often patients with CHARGE syndrome have septal defects (interventricular, interatrial) but may  also have other defects such as coarctation of the aorta, patent ductus arteriosus or tetralogy of Fallot (ventricular septal defect, right ventricular hypertrophy, overriding aorta, infundibular pulmonary stenosis).

Choanae nasal atresia is the most visible feature of CHARGE syndrome patients and is one of the main causes of mortality and morbidity, along with heart defects. Choanae atresia means that nasal sinuses do not communicate with the throat as it should. This defect can be unilateral or bilateral. Along with nasal abnormalities, patients with CHARGE syndrome may have cranial nerve abnormalities, which may lead to difficulty in swallowing, facial paralysis, deafness, anosmia (loss of sense of smell) or hyposmia.

Atresia of Nasal Choanae

Mental retardation may be mild or severe, and is present in approximately 70% of patients, but it can happen that IQ to be normal in some patients. Auditory and visual sensory abnormalities may delay motor development and acquisitions of infants with CHARGE syndrome which may contribute to mental retardation or developmental disabilities. Besides mental retardation there is also present a delay in growth that has multiple causes. On the one hand there is an intrauterine growth retardation, and on the other hand there may be endocrine dysfunctions that can lead to delays in growth (growth hormone deficiency). Besides this,  congenital defects such as choanal atresia or tracheoesophageal fistula mean that the baby cannot be fed normally and therefore he will receive a lower intake of calories.

Genitourinary abnormalities are particularly present in males. Males may have micropenis, cryptorchidism or absence of a testicle while females may have labial hypoplasia. It is believed that the cause for genitourinary abnormalities implies endocrine disorders (hypogonadotropic hypogonadism).

Ear malformations are present in almost all children with CHARGE syndrome. These defects affect both the external ear (small ears, low set) and the inner ear (Mondini malformation, semicircular canal hypoplasia / aplasia).