How is CHD7-related CHARGE syndrome inherited?

CHD7-related CHARGE syndrome follows an sporadic (occurs randomly) and autosomal dominant inheritance pattern. This means inheriting just one copy of the altered gene from either parent can cause the condition.

How is CHD7-related CHARGE syndrome diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for CHD7-related CHARGE syndrome?

Information about treatment is currently limited for this condition.

What complications can arise from CHD7-related CHARGE syndrome?

Complications from CHD7-related CHARGE syndrome can vary widely among individuals. Some people may experience difficulties with hearing, vision, or heart problems. These complications can affect daily life and may require ongoing medical care and support.

How does CHD7-related CHARGE syndrome affect daily life for patients and families?

Living with CHD7-related CHARGE syndrome can present unique challenges for patients and their families. Daily routines may involve frequent medical appointments, therapies, and special education services. Families often need to adapt their home and lifestyle to support the individual’s needs.

What is the life expectancy for someone with CHD7-related CHARGE syndrome?

Information about life expectancy for individuals with CHD7-related CHARGE syndrome is currently limited. The prognosis can vary greatly depending on the specific symptoms and complications a person experiences. Ongoing medical care and support can help improve quality of life.

Are there specific specialists that should be involved in the care of someone with CHD7-related CHARGE syndrome?

Yes, individuals with CHD7-related CHARGE syndrome may benefit from a team of specialists. This can include doctors who focus on genetics, audiology, cardiology, and developmental pediatrics. Each specialist can help address the unique needs and challenges associated with the syndrome.

Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

CHD7-related CHARGE syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

CHD7-related CHARGE syndrome

MONDO:1010178

Also known as:CHARGE syndrome due to CHD7 deficiency

Overview

A CHARGE syndrome in which the cause of the disease is a variation in the CHD7 gene.

GeneticsSporadic (not inherited), Autosomal dominant · CHD7 (chr 8)

OnsetCONGENITAL, ANTENATAL

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Postnatal growth retardation, Intellectual disability, Global developmental delay, and Inner ear hearing loss (sensorineural hearing impairment) and others; and common findings: Dysplastic tricuspid valve, Bifid femur, Aplasia of the semicircular canal, and Cataract and others. 89 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	6	Square face, Cleft palate, Microcephaly

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CHD7 encodes chromodomain helicase DNA binding protein 7 (2,997 aa). ATP-dependent chromatin-remodeling factor, slides nucleosomes along DNA; nucleosome sliding requires ATP. Probable transcription regulator. May be involved in the in 45S precursor rRNA production Highest expression in Brain Cerebellar Hemisphere (51.7 TPM) and Brain Cerebellum (48.3 TPM).

CHD7-related CHARGE syndrome is associated with mutations in the CHD7 gene on chromosome 8.

The CHD7 protein participates in CHD7 and CHD8 bind FAM124B, CHD8 and CHD7 bind CTCF, and CHD6-9-dependent ATP hydrolysis pathways.

CHD7 is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

CHD7 disorder should be suspected in individuals with combinations of the following findings and family history.

Clinical and imaging findings

Source: GeneReviews — "CHD7 Disorder"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for CHD7-related CHARGE syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

The management of the manifestations of CHD7 disorder can be complex and require a multidisciplinary approach involving clinicians, therapists, and educators. Published CHARGE syndrome guidelines (including one-page summaries) for clinical management and cranial imaging guidelines (full text) are available. Evaluations Following Initial Diagnosis To establish the extent of disease and needs of an individual diagnosed with CHD7 disorder, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 5. Recommended Evaluations Following Initial Diagnosis in an Individual with a CHD7 Disorder

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 7. Recommended Surveillance for Individuals with CHD7 Disorder

System/Concern

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for CHD7-related CHARGE syndrome.

14 publications have been identified in PubMed for CHD7-related CHARGE syndrome. Research spans Case Report / Case Series (43%), Basic Science / Preclinical (43%), and Review / Meta-Analysis (14%).

Research Type	Count	% of Total
Patient case studies	6	43%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 6:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:214800

Questions for Your Care Team

→Should I pursue genetic testing for CHD7, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about CHD7-related CHARGE syndrome

CHD7-related CHARGE syndrome is a rare genetic condition caused by a change in the CHD7 gene. This condition is also known as CHARGE syndrome due to CHD7 deficiency. The syndrome is part of a group of conditions that share overlapping features, which may affect multiple parts of the body. The name CHARGE comes from a set of clinical features that have been observed in people with the syndrome, although not every person will have all of these features. People with CHD7-related CHARGE syndrome can show a variety of signs at birth and during childhood, and the pattern of symptoms may differ among individuals. This overview is based on current limited information that specifically links the syndrome to changes in the CHD7 gene. Further clinical details and variability in presentation are still being studied and understood.

Information about symptoms is currently limited for this condition.

CHD7-related CHARGE syndrome is caused by a variation in the CHD7 gene. This genetic change affects how the gene works, leading to the clinical features that are seen in this condition. The precise details of how the genetic variation causes each of the signs and symptoms are not yet fully understood. As the name suggests, the syndrome is directly linked to issues with the CHD7 gene, which plays a role in development. Associated genes include CHD7.

← Back to All Diseases

GeneReviews

Clinical Guidance

In the premolecular era, the acronym CHARGE was proposed for the combination of the clinical features coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies (including deafness) of unknown cause . Clinical diagnostic criteria were refined for what became called CHARGE association . Following the discovery that heterozygous CHD7 variants and deletions cause CHARGE syndrome , molecular genetic testing of family members of probands with CHARGE syndrome expanded the phenotypic spectrum to include phenotypes that do not fulfill the previously proposed CHARGE syndrome clinical diagnostic criteria [, , , , ]. Thus, CHD7 disorder exhibits a high degree of clinical variability even among individuals in the same family and among individuals from different families with the same pathogenic variant . This section discusses only those reports in which a CHD7 pathogenic variant has been confirmed in affected individuals. To date reports of isolated manifestations of CHD7 disorder have been rare – many of which did not document a clinical workup sufficient to identify other features in the CHD7 disorder phenotypic spectrum. Thus, the percentages (based on persons with molecularly confirmed CHARGE syndrome ) are likely to change over time as individuals with a CHD7 pathogenic variant ascertained through use of a multigene panel or genomic testing undergo a complete clinical evaluation . Table 2. Features of CHD7 Disorder in Individuals Ascertained for CHARGE Syndrome

Feature	% of Persons w/Feature	Comment
Ocular coloboma(ranging from small retinal coloboma to anophthalmia)	80%	Light sensitivity, refractive error, loss of upper visual field/central visual field, blindness, risk of retinal detachment
Choanal atresia/stenosis	45%	Interferes w/breathing feeding; May require several surgeries to remain patent; Unilateral stenosis may be easily missed. Cranial nerve dysfunction/
anomaly	I: hyposmia or anosmia	90%
VII: facial palsy	40%	Asymmetric face or lack of facial expression
Facial nerve often has an aberrant course, which correlates w/SNHL can be damaged during cochlear implant surgery. VIII: SNHL /or vestibular dysfunction	95%	Hearing loss
Cochlear implant may not be successful. IX/X: suck swallow, abnormal GI motility	60%-80%	Lack of coordination of suck swallow, aspiration, /or gastroesophageal reflux; Oral defensiveness; Digestive constipation issues
Ear malformations	Abnormal auricle	90%
SNHL, esp high frequency Ossicular malformations	80%	Conductive hearing loss, which may fluctuate w/middle ear disease
Complex mixed hearing loss may present as a wedge-shaped audiogram. Mondini defect	90%	SNHL, esp high frequency
Semicircular canal defect	94%	Affects balance visual processing, delayed motor development
Cleft lip and/or palate	25%-50%	—
Endocrine1	Hypogonadotropic hypogonadism	50%-70%
Often in combination w/anosmia Growth deficiency	70%	May be due to growth hormone deficiency (in ~10%)
Hypothyroidism	15%-20%	—
Developmental delay/ Intellectual disability	90%/ 60%	DD due to sensory deficits (hearing, vision, balance), illness, hospitalizations
Cardiovascular malformation	74%	Conotruncal/outflow defects are particularly common; isolated ASD, VSD, PDA, PFO also occur.; Vascular sling/aberrant aortic artery may result in choking.
Tracheoesophageal anomalies	20%	Esophageal atresia w/or w/o fistula, laryngotracheomalacia, gastroesophageal reflux, feeding breathing difficulties, aspiration (pneu...

Source: GeneReviews — "CHD7 Disorder"

Differential Diagnosis

Genetic disorders with multiple features overlapping those associated with CHD7 disorder are summarized in and . Table 3. Genes to Consider in the Differential Diagnosis of CHD7 Disorder

Gene	Disorder	MOI	Clinical Features of the Differential Disorder
Joubert syndrome	ARXLDigenic	Bilateral chorioretinal coloboma, interstitial fibrosis of kidney renal insufficiency, hepatic fibrosis, neonatal tachypnea, cerebellar vermis aplasia/hypoplasia, polydactyly	"Molar tooth" sign on neuroimaging, characteristic radiologic features, absence of dysmorphic features of CHD7 disorder EYA1
SIX1	Branchiootorenal spectrum disorder1	AD	Deafness, external ear deformity, lateral semicircular canal hypoplasia, renal malformation
Kabuki syndrome	ADXL	Cleft palate, heart defects, occasional coloboma, hearing loss, growth restriction	Typical facial features: long palpebral fissures w/eversion of lateral 3rd of lower eyelids, sparse eyebrows, large prominent ears (all more prominent w/age), prominent fingertip pads
PAX2	PAX2 disorder(renal coloboma syndrome)	AD	Retinal/optic nerve colobomas; kidney abnormalities; occasional hearing loss
BMP4	Syndromic microphthalmia 6(OMIM 607932)	AD	Colobomas, external ear anomalies, hearing loss, congenital heart defect, genital hypoplasia, cleft lip/palate, pituitary problems, renal anomalies
Mandibulofacial dysostosis w/microcephaly	AD	Choanal atresia, external ear anomalies, hearing loss, congenital heart defect, growth deficiency, cleft lip/palate, esophageal atresia	Typical craniofacial features due to malar hypoplasia
FGFR1	FGFR1-related Kallmann syndrome2(OMIM 147950)	AD	Colobomas, hearing loss, genital hypoplasia, or absent sense of smell, cleft lip/palate1
GLI2	Culler-Jones syndrome(OMIM 615849)	AD	External ear anomalies, hearing loss, cleft lip/palate, growth deficiency, pituitary problems, renal anomalies
Pallister-Hall syndrome	AD	Colobomas, external ear anomalies, congenital heart defect, growth deficiency, genital hypoplasia, cleft lip/palate, pituitary problems, renal anomalies	Hypothalamic hamartomas, central polydactyly JAG1 NOTCH2
Alagille syndrome	AD	Congenital heart defect, renal anomalies	Cholestasis, butterfly vertebrae, posterior embryotoxon, triangular-shaped face MYCN
Feingold syndrome 1	AD	Hearing loss, heart defect, esophageal atresia, renal anomalies	Brachymesophalangy
OTX2	Syndromic microphthalmia 5(OMIM 610125)	AD	Colobomas, growth deficiency, genital h...

Source: GeneReviews — "CHD7 Disorder"

System/Concern	Evaluation	Comment
Constitutional	Measurement of weight, length/height, head circumference	To assess for growth failure /or obesity
Eyes	Ophthalmology eval	Best corrected visual acuity; assess for refractive error, possible amblyopia; Assess for iris coloboma, photophobia, possible corneal exposure due to VIIth nerve palsy.
involvement	Audiology eval1	Assess for conductive sensorineural hearing impairment. Clinical assessment for balance issues
Nose/Throat	Clinical eval for choanal atresia/stenosis	Suggestive findings in neonates infants incl apnea unilateral nasal discharge; Referral to otolaryngologist Assessment for tracheoesophageal fistula
Mouth	Clinical eval for cleft palate, submucous cleft palate, velopharyngeal insufficiency	Consider referral to craniofacial team. Baseline eval by dentist, typically from age ~3 yrs (or earlier in those w/cleft palate)
Cardiovascular	EKG echocardiogram3	Referral to cardiologist as indicated
Respiratory	Consider polysomnogram.	To assess for sleep apnea Consider pulmonary function tests.
Feeding	Assess for signs symptoms of dysphagia aspiration.	Consider VFSS nutrition/feeding team eval for those w/suggestive features or aspiration pneumonia. Assess for history of GERD GI motility issues.4
Genitourinary	Males: assess for micropenis /or cryptorchidism.	Cryptorchidism: referral to urologist; Micropenis: see Endocrine in this table Females: consider pelvic ultrasound examination.
Musculoskeletal	Clinical assessment for scoliosis	Consider spine radiographs as a baseline.; Consider referral to orthopedist.
Neurologic	Clinical assessment for cranial nerve abnormalities	To incl assessment for swallowing dysfunction (See Gastrointestinal/Feeding in this table.); If present, consider CT /or MRI imaging5 Cranial MRI EEG if seizures are suspected
Development	Developmental assessment	A team approach is necessary.; Incl motor, speech-language eval, general cognitive abilities, educational needs, /or vocational opportunities.; Incl appropriate testing to assess cognitive function in those w/sensory deficits.; Abilities may be underestimated, especially in early yrs.
Behavioral	Consider neuropsychiatric eval.	Adapt testing environment as needed to patient comfort.; Screen for ADHD, anxiety, obsessive-compulsive symptomatology. Endocrine
Renal	Renal US exam	To assess for renal anomalies, hydronephrosis, calcifications Blood pressure measurement

Kisho

CHD7-related CHARGE syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Clinical Guidance

Explore clinical features

Clinical Guidance

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

CHARGE Syndrome Associated With Persistent Hyperplastic Primary Vitreous: A Case Report.

Some Infants still not receiving the recommended screenings and interventions for hearing loss and critical congenital heart disease at birth - Press Release

CHD7-related CHARGE syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is CHD7-related CHARGE syndrome?

What are the symptoms of CHD7-related CHARGE syndrome?

What causes CHD7-related CHARGE syndrome?

How is CHD7-related CHARGE syndrome inherited?

How is CHD7-related CHARGE syndrome diagnosed?

Are there treatments for CHD7-related CHARGE syndrome?

What complications can arise from CHD7-related CHARGE syndrome?

How does CHD7-related CHARGE syndrome affect daily life for patients and families?

What is the life expectancy for someone with CHD7-related CHARGE syndrome?

Are there specific specialists that should be involved in the care of someone with CHD7-related CHARGE syndrome?

Clinical Guidance

Explore clinical features

Clinical Guidance

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

CHARGE Syndrome Associated With Persistent Hyperplastic Primary Vitreous: A Case Report.

Some Infants still not receiving the recommended screenings and interventions for hearing loss and critical congenital heart disease at birth - Press Release