Medical geneticists should examine infants exhibiting symptoms of CHARGE Syndrome. A CHARGE Syndrome baby may also experience sleep issues.ĬHARGE Syndrome can be diagnosed by looking at the cluster of physical symptoms, especially ocular coloboma, choanal atresia, and abnormal semicircular ear canals. Children may also be unable to communicate clearly, or tend to get frustrated easily. CHARGE Syndrome behavior can be abnormal and lead to Obsessive-Compulsive Disorder (OCD), Autism Spectrum Disorder (ASD), or Attention Deficit Hyperactivity Disorder (ADHD).Less common signs include problems with the immune system, kidney abnormalities, scoliosis, kyphosis, cleft lip and palate, limb abnormalities like extra or missing fingers or toes, and skeletal abnormalities.Some children may also experience nerve defects or abnormal semicircular canals in the inner ear, which may cause deafness. Ear abnormalities are common, and most often manifest in deformities in the outer ear that are clearly visible.Only 15% – 20% of girls with the Syndrome suffer from genital underdevelopment, but around 80% – 90% of males are affected by it. Genital abnormalities and underdevelopment are most common in males.Physical retardation caused by growth hormone deficiencies or difficulty in feeding can be detected in the first six months of the child’s life. Intellectual retardation can cause low IQ, near-normal IQ, or sometimes result in severe disabilities. Retardation can be intellectual or physical.Heart defects also occur in 75% of newborns affected by the Syndrome, and are most frequently in the form of a hole in the heart.The loss of hearing occurs in 97% of diagnosed children, and results from an underdeveloped cranial nerve. Cranial nerve abnormalities are most common, and result in facial paralysis, difficulty swallowing, or loss of sense of smell or hearing.The back of the nasal sinuses may be narrowed on one or both sides, or it may not connect to the back of the throat at all. Choanal atresia is the blockage of the nasal passage.Sometimes, one or both of the eyes may appear too small, referred to as microphthalmos, or be missing, a condition called anophthalmos. This affects around 70% – 90% of children with CHARGE Syndrome. Ocular coloboma is the presence of a slight slit in the eye, in the retina or iris, causing loss of vision.The most common physical signs of CHARGE Syndrome are reflected in the disorder’s name and include coloboma, heart defects, atresia, growth retardation, genital anomalies, and ear anomalies.
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