Charge Syndrome

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).

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.


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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
Specificity
4 %
Genes
50 %
CHD7 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

CHD7
Specificity
100 %
Genes
50 %

We have 172 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX PHOSPHOSERINE PHOSPHATASE DEFICIENCY; PSPHD COFFIN-SIRIS SYNDROME 1; CSS1 HUNTINGTON DISEASE-LIKE 2; HDL2 ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL

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