Elsahy-Waters syndrome

Elsahy-Waters syndrome is a rare genetic disorder characterized by distinct physical features and intellectual disability.

• Physical Features: The core phenotype of Elsahy-Waters syndrome consists of brachycephaly (short skull), facial asymmetry, marked hypertelorism (widely-spaced eyes), proptosis (bulging eyes), blepharochalasis (droopy eyelids), midface hypoplasia, and a short nose [5][9].
• Eye Abnormalities: The eyes are widely-spaced and often appear 'bulging' or prominent. The eyebrows are unusually bushy and the upper eyelids may have a notch [7].
• Other Features: Glaucoma and hypospadias (a birth defect where the urethra opens on the underside of the penis) have also been reported in individuals with Elsahy-Waters syndrome [7].

It's worth noting that Elsahy-Waters syndrome is an extremely rare disorder, and most reports are from a single family. The exact cause of the syndrome is not well understood, but it has been linked to biallelic mutations in the CDH11 gene (16q21) [6].

Elsahy-Waters syndrome is a rare genetic disorder characterized by multiple congenital anomalies and dysmorphic features. The core phenotype of this syndrome consists of:

• Brachycephaly: A short, broad skull shape [4][8]
• Facial asymmetry: An uneven facial structure, with one side being more developed than the other [4][8]
• Marked hypertelorism: Wide-set eyes that appear prominent or bulging [2][4][8]
• Proptosis: Bulging eyes due to an abnormal protrusion of the eyeballs from their sockets [2][4][8]
• Blepharochalasis: Droopy eyelids, often with a notch in the upper eyelid [2][4][8]

Other signs and symptoms associated with Elsahy-Waters syndrome include:

• Intellectual disability: Individuals with this syndrome may experience intellectual impairment or developmental delays [9]
• Hypospadias: A birth defect where the urethra opens on the underside of the penis, rather than at the tip [1]
• Glaucoma: An eye condition that can lead to vision loss if left untreated [2]
• Brachydactyly: Short fingers or toes [3][8]

It's essential to note that each individual with Elsahy-Waters syndrome may exhibit a unique combination of these signs and symptoms, making diagnosis and management challenging.

Elsahy-Waters syndrome can be diagnosed through various diagnostic tests, including:

• Genetic testing: Genetic tests related to Elsahy-Waters Syndrome, such as molecular karyotyping, analysis of a multigene panel, and whole-exome sequencing, can help identify the underlying genetic cause of the condition [2][6].
• Clinical Molecular Genetics test: A Clinical Molecular Genetics test for Elsahy-Waters syndrome is available, which includes deletion/duplication analysis and Next-Generation (NGS)/Massively parallel sequencing (MPS) offered by Centogene AG - the Rare Disease Company [11].
• Genetic tests for CDH11 gene: Genetic tests related to the CDH11 gene, such as homozygous mutation in the CDH11 gene, can also be used to diagnose Elsahy-Waters syndrome [6][12].

It's worth noting that a diagnosis of Elsahy-Waters syndrome is typically made by a team of medical professionals, including geneticists and other specialists, who will use a combination of these diagnostic tests to confirm the condition.

References:

[2] Taskiran EZ, Karaosmanoglu B, Kosukcu C, Dogan OA, Taylan-Sekeroglu H, Simsek-Kiper PO, Utine EG, Boduroglu K, Alikasifoglu M. Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome. Am J Med Genet A. 2018 Feb;176(2):477-482.

[6] Clinical Molecular Genetics test for Elsahy-Waters syndrome and using Deletion/duplication analysis, Next-Generation (NGS)/Massively parallel sequencing (MPS) offered by Centogene AG - the Rare Disease Company.

[11] Clinical Molecular Genetics test for Elsahy-Waters syndrome and using Deletion/duplication analysis, Next-Generation (NGS)/Massively parallel sequencing (MPS) offered by Centogene AG - the Rare Disease Company.

[12] Am J Med Genet A. 2018 Feb;176(2):477-482. PubMedID: 29271567.

Available Treatments for Elsahy-Waters Syndrome

Elsahy-Waters syndrome, a rare genetic disorder, does not have a specific cure or treatment. However, various treatments can help manage its symptoms and associated conditions.

• Surgical Repairs: Surgical interventions may be necessary to correct physical anomalies such as eyelid abnormalities and oral clefts [6].
• Special Education and Assistive Hearing Devices: Individuals with Elsahy-Waters syndrome often experience moderate intellectual disability. Special education programs and assistive hearing devices can help improve their quality of life [6].

Current Research and Development

While there is no specific treatment for Elsahy-Waters syndrome, research continues to uncover the underlying genetic causes of this condition.

• Genetic Studies: Recent studies have identified biallelic mutations in CDH11 as a cause of Elsahy-Waters syndrome [9].
• Integrated Disease Information: Online resources provide comprehensive information on rare diseases and orphan drugs, including those related to Elsahy-Waters syndrome [7].

Consulting Healthcare Professionals

It is essential for individuals with Elsahy-Waters syndrome or their families to consult healthcare professionals for personalized medical advice and treatment. They can help develop a tailored plan to address specific needs and improve overall well-being.

References:

[6] Context 6 [7] Context 7 [9] Context 9

Elsahy-Waters syndrome, also known as branchioskeletogenital syndrome, is a rare genetic disorder characterized by distinct facial features, skeletal abnormalities, and genital anomalies.

When considering the differential diagnosis for Elsahy-Waters syndrome, several conditions should be taken into account:

• Aarskog syndrome: This condition shares some similarities with Elsahy-Waters syndrome, including short stature, facial asymmetry, and genital abnormalities. However, Aarskog syndrome is typically associated with more pronounced skeletal abnormalities and a higher incidence of mental retardation.
• Crouzon syndrome: Crouzon syndrome is a genetic disorder that affects the development of the skull and face, leading to characteristic craniofacial features such as brachycephaly (shortened head) and hypertelorism (increased distance between the eyes). While some cases of Elsahy-Waters syndrome may exhibit similar facial features, Crouzon syndrome is typically associated with more pronounced craniosynostosis (premature fusion of the skull bones).
• Craniofrontonasal dysplasia: This rare genetic disorder affects the development of the face and skull, leading to characteristic features such as brachycephaly, facial asymmetry, and hypertelorism. While some cases of Elsahy-Waters syndrome may exhibit similar facial features, craniofrontonasal dysplasia is typically associated with more pronounced frontal bossing (prominence of the forehead) and a higher incidence of mental retardation.
• Frontonasal dysplasia: This rare genetic disorder affects the development of the face and nose, leading to characteristic features such as brachycephaly, facial asymmetry, and hypertelorism. While some cases of Elsahy-Waters syndrome may exhibit similar facial features, frontonasal dysplasia is typically associated with more pronounced nasal abnormalities.
• Teebi syndrome: This rare genetic disorder affects the development of the face and skull, leading to characteristic features such as brachycephaly, facial asymmetry, and hypertelorism. While some cases of Elsahy-Waters syndrome may exhibit similar facial features, Teebi syndrome is typically associated with more pronounced craniosynostosis.

It's essential to note that a definitive diagnosis of Elsahy-Waters syndrome can only be made through genetic testing and a thorough medical evaluation by a qualified healthcare professional. [1][2][3][4][5]

References: [1] - Context 10 [2] - Context 9 [3] - Context 6 [4] - Context 7 [5] - Context 5