How is Cornelia de Lange syndrome 6 inherited?

Cornelia de Lange syndrome 6 follows an autosomal dominant inheritance pattern. This means inheriting just one copy of the altered gene from either parent can cause the condition.

How is Cornelia de Lange syndrome 6 diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Cornelia de Lange syndrome 6?

Information about treatment is currently limited for this condition.

What complications might arise from Cornelia de Lange syndrome 6?

Information about specific complications related to Cornelia de Lange syndrome 6 is limited. However, like other types of Cornelia de Lange syndrome, individuals may face various challenges that could affect their health and development. Continued research may help identify potential complications in the future.

How does Cornelia de Lange syndrome 6 affect daily life?

Details about how Cornelia de Lange syndrome 6 affects daily life are not well documented. However, individuals with this syndrome may experience challenges that could impact their daily activities and routines. Families may need to adapt their daily lives to support the unique needs of their loved ones with this condition.

What is the life expectancy for someone with Cornelia de Lange syndrome 6?

Currently, there is limited information about the life expectancy of individuals with Cornelia de Lange syndrome 6. Since this is a rare condition, more research is needed to understand its long-term effects and outcomes. Families should consult with healthcare providers for guidance and support.

Are there any specialists recommended for Cornelia de Lange syndrome 6?

Information about specific specialists for Cornelia de Lange syndrome 6 is not readily available. However, families may benefit from consulting with geneticists, developmental pediatricians, or other healthcare professionals who specialize in rare genetic conditions. These specialists can help manage the health and developmental needs of individuals with this syndrome.

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Cornelia de Lange syndrome 6 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Cornelia de Lange syndrome 6

MONDO:0957921

Overview

GeneticsAutosomal dominant · BRD4 (chr 19)

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: Inguinal hernia, Gastroesophageal reflux, Cleft lip, and Short 1st metacarpal and others; and very common findings: Anteverted nares, Short nose, Sparse eyebrow, and Intellectual disability and others. 40 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Intellectual disability, Delayed speech and language development, Global developmental delay

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.

BRD4 encodes bromodomain containing 4 (1,362 aa). Chromatin reader protein that recognizes and binds acetylated histones and plays a key role in transmission of epigenetic memory across cell divisions and transcription regulation. Highest expression in Uterus (39.4 TPM) and Artery Tibial (38.9 TPM).

Cornelia de Lange syndrome 6 is associated with mutations in the BRD4 gene on chromosome 19.

The BRD4 protein participates in BRD4 binding to CD274 gene chromatin, IRF1 binding to CD274 promoter, and BRD4:CD274 gene chromatin pathways.

BRD4 is classified as a druggable target (Clinically Actionable, Druggable Genome, Enzyme, Kinase, and Serine Threonine Kinase categories) with score 2.9.

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

Cornelia de Lange syndrome (CdLS) constitutes a clinical spectrum, with some individuals having milder features and others displaying more severe, classic features. An international consensus statement has defined both cardinal and suggestive features, as well as a scoring system to define classic and non-classic CdLS to assist with clinical genetic testing decisions .

Suggestive Findings

Cornelia de Lange syndrome (CdLS) should be suspected in individuals with the following clinical and radiographic features.

Clinical findings

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 Cornelia de Lange syndrome 6. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Clinical management guidelines for Cornelia de Lange syndrome have been published (full text). Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with Cornelia de Lange syndrome, 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 Individuals with Cornelia de Lange Syndrome

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 Cornelia de Lange Syndrome

System/Concern | Evaluation | Frequency

Feeding

| • Measure growth parameters.

Evaluate nutritional status safety of oral intake.

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 Cornelia de Lange syndrome 6.

37 publications have been identified in PubMed for Cornelia de Lange syndrome 6. Research spans Epidemiology / Natural History (27%), Review / Meta-Analysis (22%), and Clinical Trial Publication (16%).

Research Type	Count	% of Total
Disease patterns and progression	10	27%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 9:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620568

Questions for Your Care Team

→Should I pursue genetic testing for BRD4, 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 Cornelia de Lange syndrome 6

Cornelia de Lange syndrome 6 is a rare genetic condition. There is limited detailed information available about this specific type of Cornelia de Lange syndrome. The condition has been linked to changes in the BRD4 gene. People with this condition may face challenges related to its various aspects, but clear descriptions of the overall characteristics and impact are still limited in the medical literature. Continued research and updated findings may help to clarify the full spectrum of features related to this syndrome.

Information about symptoms is currently limited for this condition.

Cornelia de Lange syndrome 6 is associated with changes in the BRD4 gene. This connection indicates that the syndrome has a genetic basis. However, detailed information on the exact genetic mechanisms and risk factors is not extensively available. Associated genes include BRD4.

← Back to All Diseases

GeneReviews

Clinical Guidance

While classic Cornelia de Lange syndrome (CdLS) was formally characterized more than 70 years ago and well delineated clinically , the identification of the molecular genetic basis of CdLS has led to the recognition of affected individuals who have milder or atypical features. Therefore, this condition encompasses a spectrum of findings from mild to severe . Those with a milder phenotype, which is less striking clinically than the classic form of CdLS, may represent the majority of individuals with CdLS . Table 2. Features of Cornelia de Lange Syndrome

Feature	% of Persons w/Feature	Comment
Synophrys	98%1	In individuals w/classic features
Feeding difficulties	95%	—
Growth failure	95%	May be noted prenatally
Intellectual disability	95%	Typically severe to profound in those w/classic CdLS
Small hands feet	90%	—
Microbrachycephaly	90%	—
Long eyelashes	90%	—
Thin upper vermilion border of lip	90%	—
Downturned corners of mouth	90%	—
Dental problems	90%	Delayed secondary tooth eruption, small or absent teeth, malposition, overcrowding, caries due to GERD, periodontal disease, bruxism
Hypertrichosis	80%	Involving the face, ears, back, arms
Hearing loss	80%	40% have profound SNHL, although hearing loss may improve over time.
Micrognathia	80%	In those w/classic features
Radial head underdevelopment	79%	—
Gastroesophageal reflux disease	75%	—
Clinodactyly	70%	—
Nasolacrimal duct obstruction	70%	—
Ptosis	60%	—
Cutis marmorata	60%	—
Self-injurious behavior	56%	—
Sleep difficulties	50%	—
Mandibular spurs	42%	—
Scoliosis	33%	—
High arched palate w/clefting	30%	—
Congenital heart defects	30%	Most commonly pulmonic or peripheral pulmonic stenosis, VSD, ASD
Seizures	25%	—
Oligodactyly	25%	ASD = atrial septal defect; GERD = gastroesophageal disease; SNHL = sensorineural hearing loss; VSD = ventricular septal defect Growth. Prenatal-onset growth failure is present in a majority of individuals with CdLS.

Source: GeneReviews — "Cornelia de Lange Syndrome"

GeneReviews

Differential Diagnosis

Phenotypic overlap with CdLS may be observed in monogenic disorders , chromosome abnormalities, and fetal alcohol syndrome. Table 4. Genes of Interest in the Differential Diagnosis of Cornelia de Lange Syndrome

Gene	Disorder	MOI	Features of Differential Disorder
CHOPS syndrome	AD	Cognitive impairment, heart defects, short stature, skeletal dysplasia	Coarse facial features, obesity, pulmonary involvement (features that are not typical for CdLS)1 ANKRD112
KBG syndrome	AD	DD/ID, short stature, thick eyebrows synophrys, anteverted nares3	ID is typically milder; macrodontia, few congenital defects
ASXL1	Bohring-Opitz syndrome (BOS)	AD	DD/ID; prenatal postnatal growth restriction, microcephaly, hypertrichosis, small feet, facial resemblance w/CdLS (especially infants)
EP300 Rubinstein-Taybi Syndrome (RSTS)	AD	DD/ID, small stature, hypertrichosis, full eyebrows, long lashes, micrognathia, malrotation5	Prominent nose broad thumbs (both less common in EP300-RSTS than in CREBBP-RSTS)6
TAF1	Intellectual disability syndrome (OMIM 300966)	XL	DD/ID, long philtrum, anteverted nares, microcephaly, hearing loss7
TAF6	Alazami-Yuan syndrome (OMIM 617126)	AR	Short stature, microcephaly, clinodactyly, hirsutism, DD/ID, facial dysmorphism w/long philtrum, thin arched eyebrows, synophrys8

Source: GeneReviews — "Cornelia de Lange Syndrome"

System/Concern	Evaluation	Comment
Constitutional	Measurement of growth parameters	CdLS-specific growth charts are available.1
Neurologic	Neurologic eval	Consider EEG if seizures are a concern.
Development	Developmental assessment	Motor, adaptive, cognitive, speech-language eval. Speech therapy is highly recommended to optimize communication skills should be implemented in 1st 18 mos of life.; Eval for early intervention/ special education
Behavioral	Neuropsychiatric eval	For persons age 12 mos: screen for concerns incl sleep disturbances, ADHD, anxiety, /or findings suggestive of ASD.
Musculoskeletal	Consider radiographs of upper extremities	To assess for radioulnar synostosis Orthopedics/ physical medicine rehab/ PT OT eval
Feeding	Gastroenterology/ nutrition/ feeding team eval	Consider upper GI series to evaluate for malrotation.; Consider endoscopy, pH probe for severe or refractory GERD.; Eval of aspiration risk; Eval of nutritional status; Consider eval for gastrostomy tube placement in those w/dysphagia /or aspiration risk.
Eyes	Ophthalmologic eval	Incl eval for nasolacrimal duct patency, ptosis, assessment of visual acuity, dilated fundus exam, measurement of intraocular pressure
Hearing	Audiologic eval2	Assess for hearing loss.
ENT/Mouth	Clinical assessment for cleft palate	Examination of palate by both inspection palpation at diagnosis; In case of symptoms of a (submucous) cleft palate, referral for specialist assessment is indicated.
Dental	Dental assessment	In infancy in those w/cleft palate or after tooth eruption
Cardiovascular	Echocardiogram	Assessment for congenital heart defects
Genitourinary	Assessment for cryptorchidism /or hypospadias in males	Consider referral to urologist. Kidney ultrasound
Hematologic	Complete blood count	If signs of anemia, bruising, /or bleeding
Immunologic	Complete blood count immune profile3	If recurrent infections are present, consider referral to immunologist. Miscellaneous/
Other	Consultation w/clinical geneticist /or genetic counselor	To incl genetic counseling Family support resources
Treatment of Manifestations in Individuals with Cornelia de Lange Syndrome Manifestation/Concern	Treatment	Considerations/Other Poor weight gain/
Failure to thrive	Feeding therapy; gastrostomy tube placement may be required for persistent feeding issues.	Low threshold for clinical feeding eval /or radiographic swallowing study if clinical signs or symptoms of dysphagia; Referral to a nutritionist may be considered. Gastroesophageal reflux disease
Malrotation	Surgical correction	—
Epilepsy	Standard treatment w/ASM by experienced neurologist	Many ASMs may be effective; none has been demonstrated effective specifically for CdLS.; Education of parents/caregivers1 DD/ID

Kisho

Cornelia de Lange syndrome 6

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Feeding

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

Therapies Under Investigation

Clinical Trials

Gastrointestinal

Respiratory

Neurologic

Development

Behavioral

Musculoskeletal

Other

Dental

Hearing

Recent Publications

Cornelia de Lange syndrome 6

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Feeding

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 Cornelia de Lange syndrome 6?

What are the symptoms of Cornelia de Lange syndrome 6?

What causes Cornelia de Lange syndrome 6?

How is Cornelia de Lange syndrome 6 inherited?

How is Cornelia de Lange syndrome 6 diagnosed?

Are there treatments for Cornelia de Lange syndrome 6?

What complications might arise from Cornelia de Lange syndrome 6?

How does Cornelia de Lange syndrome 6 affect daily life?

What is the life expectancy for someone with Cornelia de Lange syndrome 6?

Are there any specialists recommended for Cornelia de Lange syndrome 6?

Clinical Guidance

Explore clinical features

Clinical Guidance

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Gastrointestinal

Respiratory

Neurologic

Development

Behavioral

Musculoskeletal

Other

Dental

Hearing

Recent Publications