Charge Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).

Genes related to Charge Syndrome

CHD7
SEMA3E

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Charge Syndrome

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia
Hearing impairment
Microcephaly
Scoliosis
Growth delay
Hypertelorism

And another 182 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available CHARGE SYNDROME have a estimated birth prevalence of 6.5 per 100k in Europe.
— No data available about the known clinical features onset.

Alternative names

Charge Syndrome Is also known as charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies, hhs, charge association, coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome, hall.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Charge Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CHD7 Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories (United States). CHD7 Specificity 100 % Genes 50 %
CHD7 Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories (United States). CHD7 Specificity 100 % Genes 50 %
CHD7 Deletion/Duplication Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories (United States). CHD7 Specificity 100 % Genes 50 %
CHD7 Sequence Analysis. By Baylor Miraca Genetics Laboratories (United States). CHD7 Specificity 100 % Genes 50 %
CHD7 Sequence Analysis (Familial Mutation/Variant Analysis). By Baylor Miraca Genetics Laboratories (United States). CHD7 Specificity 100 % Genes 50 %
CHD7 Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories (United States). CHD7 Specificity 100 % Genes 50 %
PreSeek Non-invasive Prenatal Gene Sequencing Screen. By Baylor Miraca Genetics Laboratories (United States). RIT1, BRAF, SMC1A, SOS1, SOS2, CDKL5, SYNGAP1, TSC1, TSC2, HDAC8, NSD1, CBL, SHOC2, CHD7, COL1A2, SMC3, NIPBL, FGFR2, FGFR3, HRAS , (...) View the complete list with 9 more genes Panel complete gene list RIT1, BRAF, SMC1A, SOS1, SOS2, CDKL5, SYNGAP1, TSC1, TSC2, HDAC8, NSD1, CBL, SHOC2, CHD7, COL1A2, SMC3, NIPBL, FGFR2, FGFR3, HRAS, JAG1, KRAS, MAP2K1, MAP2K2, MECP2, NRAS, PTPN11, RAD21, RAF1 Specificity 4 % Genes 50 %
CHD7 DNA Sequencing Test. By Athena Diagnostics Inc (United States). CHD7 Specificity 100 % Genes 50 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Genetic Syndrome Finder

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