Question 1

What is Elsahy-Waters syndrome?

Accepted Answer

Elsahy-Waters syndrome is an extremely rare multisystem congenital anomaly syndrome characterized by distinctive facial, dental, skeletal, and genitourinary abnormalities. It is associated with mild intellectual disability and developmental delays, fitting into the broader category of dysmorphic syndromes. The condition is linked to variants in the CDH11 gene and has been described in only a few affected boys, indicating a possible male predominance. Given its rarity, it affects fewer than 1 in 1,000,000 individuals.

Question 2

What are the symptoms of Elsahy-Waters syndrome?

Accepted Answer

Individuals with Elsahy-Waters syndrome typically present with a constellation of physical and neurodevelopmental features. Characteristic findings include a broad nasal bridge, bulbous and wide nose, hypertelorism, and a pointed chin, alongside orofacial anomalies such as bifid uvula or partial cleft palate, high palate, and delayed eruption of teeth. Musculoskeletal findings such as fused cervical spinous processes, shortening of the phalanges, and pectus excavatum are also observed. Genitourinary anomalies such as hypospadias, bifid scrotum, and bilateral cryptorchidism are consistently reported. In addition, cognitive and developmental aspects manifest as mild intellectual disability and delayed fine motor development. Not all individuals experience all features, and severity varies considerably.

Question 3

What causes Elsahy-Waters syndrome?

Accepted Answer

Elsahy-Waters syndrome is associated with variants in the CDH11 gene, which plays a role in cell adhesion and developmental processes. The condition is inherited in an autosomal recessive pattern, meaning that an affected individual has received two copies of the altered gene, one from each parent. This inheritance pattern also means that the condition is more common when parents share a common ancestor, as they are more likely to both carry the same rare genetic variant. Families with an affected child have a recurrence risk of 25% for each subsequent pregnancy, which underscores the importance of genetic counseling. Associated genes include CDH11.

Question 4

How is Elsahy-Waters syndrome inherited?

Accepted Answer

Elsahy-Waters syndrome follows an autosomal recessive inheritance pattern. This means a child must inherit a copy of the altered gene from both parents to develop the condition. Parents who each carry one copy typically do not show symptoms.

Question 5

How rare is Elsahy-Waters syndrome?

Accepted Answer

Elsahy-Waters syndrome is classified as very rare. The estimated prevalence is approximately <1 in 1,000,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

Question 6

How is Elsahy-Waters syndrome diagnosed?

Accepted Answer

Diagnosis of Elsahy-Waters syndrome is confirmed through molecular genetic testing that identifies pathogenic variants in the CDH11 gene. Clinical evaluation, which considers the characteristic physical findings such as craniofacial dysmorphism, dental anomalies, and genitourinary malformations, as well as developmental delays, assists in guiding the decision for genetic testing. Because many of the features can overlap with other congenital anomaly syndromes, genetic testing is essential to establish a definitive diagnosis.

Question 7

Are there treatments for Elsahy-Waters syndrome?

Accepted Answer

Currently, management focuses on supportive care and symptom relief, as there are no FDA-approved or foundational therapies specific to Elsahy-Waters syndrome. Treatment is tailored to the individual and typically involves a multidisciplinary team to address the various affected systems. Regular surveillance is an essential part of long-term care, helping to identify potential complications early, and supportive therapies may include interventions for developmental delays, dental care, and surgical correction of genitourinary or skeletal anomalies as needed. Genetic counseling is also recommended to help families understand inheritance and options for future family planning. Patients should discuss treatment options with their healthcare team to determine which therapies may be most appropriate for their situation.

Question 8

Are there clinical trials for Elsahy-Waters syndrome?

Accepted Answer

Yes, there is currently 1 active clinical trial for Elsahy-Waters syndrome registered on ClinicalTrials.gov. Clinical trials test new treatments, procedures, or approaches. Your healthcare provider can help determine if a trial might be appropriate for your situation. Visit the Treatment section of this page for more details.

Question 9

What are the potential complications associated with Elsahy-Waters syndrome?

Accepted Answer

Individuals with Elsahy-Waters syndrome may face various complications due to the multisystem nature of the condition. These can include developmental delays, dental issues, and skeletal anomalies. Regular medical check-ups are important to monitor and manage these complications effectively.

Question 10

How does Elsahy-Waters syndrome affect daily life and development?

Accepted Answer

Elsahy-Waters syndrome can impact daily life through developmental delays and physical challenges. Children may need additional support for learning and fine motor skills. Families often work with a team of specialists to provide therapies that help improve daily functioning and overall quality of life.

Question 11

What is the prognosis for individuals with Elsahy-Waters syndrome?

Accepted Answer

The prognosis for Elsahy-Waters syndrome varies widely depending on the severity of the symptoms. Many individuals can benefit from supportive therapies that enhance their quality of life. However, challenges like developmental delays and physical anomalies may persist, so ongoing care and support are essential.

Question 12

What specialists should families consult for managing Elsahy-Waters syndrome?

Accepted Answer

Families managing Elsahy-Waters syndrome should consult a multidisciplinary team of specialists. This may include geneticists, developmental pediatricians, and surgeons for any physical anomalies. Working with a team ensures that all aspects of the condition are addressed, providing comprehensive care for the individual.

Kisho

Elsahy-Waters syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Explore clinical features

Elsahy-Waters syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Elsahy-Waters syndrome?

What are the symptoms of Elsahy-Waters syndrome?

What causes Elsahy-Waters syndrome?

How is Elsahy-Waters syndrome inherited?

How rare is Elsahy-Waters syndrome?

How is Elsahy-Waters syndrome diagnosed?

Are there treatments for Elsahy-Waters syndrome?

Are there clinical trials for Elsahy-Waters syndrome?

What are the potential complications associated with Elsahy-Waters syndrome?

How does Elsahy-Waters syndrome affect daily life and development?

What is the prognosis for individuals with Elsahy-Waters syndrome?

What specialists should families consult for managing Elsahy-Waters syndrome?

Explore clinical features