Living with Elsahy-Waters syndrome
A rare genetic condition with moderate intellectual disability, distinctive face and jaw features, tooth problems, and fused neck bones.
Understanding Elsahy-Waters syndrome
People have moderate intellectual disability and distinctive facial features, such as widely spaced eyes, bulging eyes, a broad nose, and a bifid uvula or partial cleft palate. Teeth problems get worse over time and include cysts and early tooth loss. Neck bones are fused, and boys may have hypospadias. Hearing loss has also been seen. It is present from the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Moderate intellectual disability
- Widely spaced and bulging eyes
- Dental differences and early tooth loss
- Fused neck bones
- Bifid uvula (split uvula)
- Craniosynostosis (skull bones joining early)
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 brain and nervous system specialists, genetic specialists and urinary and male reproductive system specialists.
- 3Consider genetic testing
Changes in CDH11 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Urinary and male reproductive system specialists (urologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 CDH11 gene cause this condition. It can be autosomal recessive (a changed copy from each parent) or X-linked.
Also known as: brachioskeletogenital syndrome; branchio-skeleto-genital syndrome; branchioskeletogenital syndrome; bsg syndrome; esws; hypospadias-hypertelorism-coloboma and deafness syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Elsahy-Waters syndrome.
Explore research for Elsahy-Waters syndrome
Explore actively recruiting Elsahy-Waters syndrome studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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