Living with Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
A rare genetic syndrome with cleft lip and palate, distinct facial features, heart differences, and hearing loss, without intellectual disability.
Understanding Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
Cleft lip and palate can be on one or both sides. Facial features can include a prominent forehead, wide-set eyes, a broad flat nasal bridge, cupped ears, and a small lower jaw. Other features vary, such as heart differences, a sunken chest, hand and foot differences, eye problems, and hearing loss. GARD says there is no intellectual disability. It lists onset at birth.
Signs & symptoms
GARD doesn't list specific symptoms for this condition, but the summary describes:
- Cleft lip and palate
- Heart differences
- Hearing loss
- Wide-set eyes and small lower jaw
- Sunken chest (pectus excavatum)
- Nearsightedness or cataract
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include ear, nose, and throat specialists, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in HYAL2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
American Cleft Palate Craniofacial Association and World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: American Cleft Palate Craniofacial Association, World Craniofacial Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with American Cleft Palate Craniofacial Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the HYAL2 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome; cleft lip and palate, craniofacial dysmorphism, congenital heart defect, deafness syndrome; cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome; hyaluronidase 2 deficiency
Patient organizations
- American Cleft Palate Craniofacial AssociationCleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome · United States
- FACES: The National Craniofacial AssociationCleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome.
Explore research for Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
Explore actively recruiting Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome studies with HealthSpark.
Find actively recruiting studies for Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.