CHARGE Syndrome: Symptoms & Causes - Cleveland Clinic
Jul 14, 2022 · CHARGE syndrome affects several parts of your body because the mutated gene that causes the condition doesn’t give your cells the instructions they need to form and function properly. Symptom severity ranges from mild to severe and life-threatening complications could happen if your newborn’s heart and internal organs didn’t form ...
CHARGE syndrome - Wikipedia
CHARGE syndrome (formerly known as CHARGE association) is a rare syndrome caused by a genetic disorder. First described in 1979, the acronym "CHARGE" came into use for newborn children with the congenital features of coloboma of the eye, heart defects , atresia of the nasal choanae , restricted growth or development , genital or urinary ...
CHARGE Syndrome - StatPearls - NCBI Bookshelf
Mar 6, 2023 · CHARGE syndrome is an acronym for coloboma, heart disease, atresia of the choanae, retarded growth and mental development, genital anomalies, and ear malformations and hearing loss. CHARGE syndrome can have high morbidity, but the morbidity can be minimized by early diagnosis and treatment.
A case series of CHARGE syndrome: identification of key features …
Here we report eight cases of CHARGE syndrome whose diagnosis was made early in life with the intent to identify the most helpful features allowing a prompt clinical diagnosis.
CHARGE syndrome: report of 47 cases and review - PubMed
Apr 13, 1998 · Here we report on 47 CHARGE patients evaluated for the frequency of major anomalies, namely coloboma (79%), heart malformation (85%), choanal atresia (57%), growth and/or mental retardation (100%), genital anomalies (34%), ear anomalies (91%) …
A case report of CHARGE syndrome caused by a de novo CHD7 …
This article describes the case of a patient with CHARGE syndrome. The clinical data of the patient as well as the whole-genome sequencing results of the child and parents were retrospectively analyzed to determine the pathogenicity of the gene ...
CHARGE syndrome: A case report of two new CDH7 gene …
Jul 29, 2021 · CHARGE syndrome is a genetic disorder comprising the following clinical features: coloboma, heart defects, choanal atresia, retardation (of growth and development), as well as genitourinary and ear abnormalities. This syndrome is caused by mutations in the CDH7 gene, located on chromosome 8 (8q12).
CHARGE Syndrome—A Five Case Study of the Syndrome …
Jan 1, 2015 · CHARGE syndrome is characterized by impaired vision and hearing, as well as physical malformations. The aim of this study is to describe the characteristics of the malformations and the health care consumption during the first year, in a Swedish sample having CHARGE syndrome.
Epigenetic Developmental Disorders: CHARGE syndrome, a case …
This review focuses on CHARGE syndrome, a multiple anomaly condition caused by mutations in the gene encoding CHD7, an ATP-dependent chromatin remodeling protein. CHD7 exhibits pleiotropic effects during embryonic development, consistent with highly variable clinical features in CHARGE syndrome.
CHARGE syndrome with early fetal ear abnormalities: A case …
CHARGE syndrome is a rare genetic disorder characterized by several distinct features. The presence of fetal ear abnormalities could be the early indicator of CHARGE syndrome. Subsequent prenatal diagnosis is essential to confirm the disorder.