This can result in a keyhole-shaped pupil (iris coloboma) and/or abnormalities in the retina, macula or optic nerve. The diagnosis of CHARGE syndrome should be made by a medical geneticist based on the presence of at least one major criterion and several minor and/or occasional criteria of CHARGE syndrome (see below).įeatures seen commonly in CHARGE, rarely in other conditions: Coloboma, Cranial nerve abnormalities, Choanal atresia, typical CHARGE Ear.Ī coloboma is a cleft or failure to close of the eyeball during fetal development. Other characteristics of CHARGE syndrome may not become apparent until later in life. Three-dimensional reconstructions of MRI scans showed temporal bone abnormalities in over 85%.ĬHARGE syndrome affects multiple organ systems, resulting in multiple problems apparent at birth. Postnatal growth failure and swallowing problems are very frequent associated with cranial nerve dysfunctions. The following cardinal symptoms were found among CHD7+ cases: coloboma 73% heart defects 63% choanal atresia 43% IUGR 24% genital abnormalities 56% semicircular canal agenesis/hypoplasia 99% deafness 97% external ear anomalies 86% internal ear anomalies (SCC defects excluded) 65% anosmia 83% olfactory bulb agenesis 76% cranial nerve defects 74% intellectual disability 62% CNS defects 51% kidney 31% esophageal anomalies 24% and cleft lip and/or palate 20%. Among 119 French children with CHARGE syndrome, CHD7 mutations were found in 83% of typical CHARGE syndrome individuals, and 58% of atypical cases. The cause of CHARGE is usually a new mutation (change) in the CHD7 gene, or rarely, genomic alterations in the region of chromosome 8q12.2 where the CHD7 gene is located. The symptoms of CHARGE syndrome vary greatly from one child to another. In addition to the CHARGE features above, most children with CHARGE syndrome have other features, including characteristic facial features: asymmetric facial nerve palsy, cleft lip or palate, esophageal atresia (blind-ending food pipe) or tracheoesophageal fistula (connection between the wind pipe and the food pipe). Diagnosis is based on a specific set of features (see below). The CHARGE acronym comes from the first letter of some of the more common features seen in these children: (C) = coloboma (usually retinochoroidal) and cranial nerve defects (80-90%) (H) = heart defects in 75-85%, especially tetralogy of Fallot (A) = atresia of the choanae (blocked nasal breathing passages) (50-60%) (R) = retardation of growth (70-80%) and development (G) = genital underdevelopment due to hypogonadotropic hypogonadism (E) = ear abnormalities and sensorineural hearing loss (>90%).
5 Myths About Orphan Drugs and the Orphan Drug ActĬHARGE syndrome is a rare disorder that arises during early fetal development and affects multiple organ systems.Information on Clinical Trials and Research Studies.
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