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Desanto Shinawi Syndrome in Babies

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I. Introduction

If you're a parent of a young child who has been diagnosed with Desanto Shinawi Syndrome, you may be feeling overwhelmed and uncertain about what lies ahead. Desanto Shinawi Syndrome is a rare genetic disorder that affects the development of multiple systems in the body, including the brain, heart, and digestive system. Understanding this condition is essential for parents and caregivers of children with Desanto Shinawi Syndrome to provide the best possible care and support.

Desanto Shinawi Syndrome is named after two of the researchers who first described the condition, Dr. Laura Desanto and Dr. Nadav Shinawi. It is also known as 15q24 microdeletion syndrome, referring to the specific genetic abnormality that causes the condition. While it is a rare condition, with only a few hundred cases reported in medical literature, it is essential to understand its causes, symptoms, and treatments to help your child thrive.

In this article, we will provide an overview of Desanto Shinawi Syndrome, including its causes, symptoms, diagnosis, and treatment options. We'll also discuss available resources and support networks that can help families navigate this condition. Our goal is to provide you with the knowledge and tools you need to help your child live their best possible life, despite the challenges of Desanto Shinawi Syndrome.

II. frequntly asked

What is Desanto Shinawi Syndrome life expectancy?

There is currently no known life expectancy for individuals with Desanto Shinawi Syndrome as it is a rare and newly identified genetic condition. However, the severity and specific symptoms can vary widely between individuals. It is important for individuals with the condition to receive appropriate medical and developmental interventions to support their overall health and wellbeing.

How many people have DeSanto shinawi syndrome?

The prevalence of DeSanto-Shinawi syndrome is currently unknown. As it is a recently discovered condition, there is limited information on its incidence in the general population. However, it is considered a rare genetic disorder.

What characterize Desanto Shinawi Syndrome?

Desanto Shinawi Syndrome is characterized by a range of physical, cognitive, and developmental symptoms. Physical characteristics may include distinct facial features, hearing loss, and heart defects. Cognitive and developmental delays may manifest in areas such as language development, motor skills, and intellectual functioning. Behavioral and emotional symptoms may include hyperactivity, anxiety, and autism spectrum disorder.

What are the signs of Desanto Shinawi Syndrome?

Some signs of DeSanto-Shinawi Syndrome may include intellectual disability, delayed speech and language development, low muscle tone (hypotonia), feeding difficulties, distinctive facial features, hearing loss, vision problems, and seizures. Children with this syndrome may also have behavioral and emotional issues, such as hyperactivity, impulsivity, and anxiety. The severity and specific symptoms can vary between individuals.

III. Overview of Desanto Shinawi Syndrome

Desanto Shinawi Syndrome is a rare genetic disorder that was first identified in medical literature in 2011. It is caused by a deletion of genetic material on chromosome 15, specifically at the 15q24 region. This deletion can affect multiple systems in the body, leading to a range of symptoms and medical issues.

Children with Desanto Shinawi Syndrome may experience baby developmental delays, intellectual disability, and physical abnormalities. Some of the physical characteristics associated with the condition include facial abnormalities, heart defects, and problems with the digestive system. Other common features of Desanto Shinawi Syndrome include a small head size, short stature, and poor muscle tone.

The prevalence of Desanto Shinawi Syndrome is not well-established, as it is a relatively new condition that has only been recently identified. However, it is estimated to occur in less than 1 in 10,000 individuals. Due to its rarity, it can be challenging to diagnose and treat.

Despite the challenges associated with Desanto Shinawi Syndrome, there is hope for children and families affected by the condition. Early intervention services, such as physical and occupational therapy, speech therapy, and developmental interventions, can help children with Desanto Shinawi Syndrome reach their full potential. Additionally, ongoing medical care and support can help manage the physical and medical issues associated with the condition.

In the following sections of this article, we will provide more detailed information on the causes, symptoms, diagnosis, treatment options, and support resources available for families affected by Desanto Shinawi Syndrome.

IV. Causes of Desanto Shinawi Syndrome

Desanto Shinawi Syndrome is a genetic disorder caused by a deletion of genetic material on chromosome 15, specifically at the 15q24 region. This deletion can occur spontaneously, without any known family history of the condition, or it can be inherited from a parent who also has the deletion.

In cases where the deletion is inherited, the pattern of inheritance is usually autosomal dominant. This means that a parent with the deletion has a 50% chance of passing it on to their child. However, in some cases, the deletion may occur spontaneously during fetal development, without any known family history.

While the exact cause of the deletion that leads to Desanto Shinawi Syndrome is not well-understood, there are some potential environmental factors that may contribute to the development of the condition. For example, maternal age at conception and exposure to certain medications or toxins during pregnancy have been suggested as possible risk factors.

Current research on Desanto Shinawi Syndrome is ongoing, with a focus on understanding the underlying genetic mechanisms and potential environmental factors that may contribute to the condition. This research is essential for developing new treatment approaches and improving outcomes for individuals with Desanto Shinawi Syndrome.

V. Symptoms of Desanto Shinawi Syndrome

Desanto Shinawi Syndrome is characterized by a range of physical, cognitive, and behavioral symptoms. Some of the physical characteristics associated with the condition may include low birth weight, feeding difficulties, and delayed growth and baby development. Children with Desanto Shinawi Syndrome may also have distinct facial features, such as a small head size, widely spaced eyes, and a small chin.

In addition to these physical symptoms, children with Desanto Shinawi Syndrome may also experience cognitive and developmental delays. This can include delays in reaching developmental milestones, such as sitting up, crawling, and walking, as well as delays in speech and language development.

Children with Desanto Shinawi Syndrome may also exhibit behavioral and emotional symptoms, such as hyperactivity, impulsivity, and difficulty with social interactions. Some individuals with the condition may also experience anxiety, depression, or other mental health issues.

There are also several medical issues associated with Desanto Shinawi Syndrome, including seizures, heart defects, and gastrointestinal problems. It is important for parents of children with Desanto Shinawi Syndrome to work closely with their healthcare team to monitor for and manage these potential health concerns.

VI. Diagnosis of Desanto Shinawi Syndrome

Diagnosing Desanto Shinawi Syndrome typically involves a combination of medical and developmental assessments, as well as genetic testing and counseling. A healthcare provider may begin the diagnostic process by conducting a thorough physical exam and reviewing the child's medical and family history.

Developmental assessments, such as the Ages and Stages Questionnaire or the Denver Developmental Screening Test, may also be used to evaluate the child's developmental progress and identify any delays or deficits.

Genetic testing, such as chromosomal microarray analysis or whole exome sequencing, can help to identify any genetic mutations or abnormalities associated with Desanto Shinawi Syndrome. Genetic counseling may also be recommended for families to help them understand the implications of a positive genetic test result and make informed decisions about family planning.

It is important to note that diagnosis of Desanto Shinawi Syndrome can be a lengthy and complex process, and may require input from a team of healthcare professionals, including geneticists, developmental pediatricians, and other specialists. Parents of children who have been diagnosed with Desanto Shinawi Syndrome should work closely with their healthcare team to develop an individualized treatment plan and access appropriate support resources.
While there is no cure for Desanto Shinawi Syndrome, early intervention and ongoing care can help manage symptoms and improve overall quality of life for affected children and families. The specific treatment approach may vary depending on the individual needs of each child.

VII. Treatment for Desanto Shinawi Syndrome

Medical interventions may be necessary to manage physical symptoms associated with the condition, such as congenital heart defects or gastrointestinal issues. Children with Desanto Shinawi Syndrome may also benefit from early intervention services, which can help address developmental delays and provide support for learning and socialization. These services may include physical therapy, speech therapy, and occupational therapy.

In addition to medical and developmental interventions, children and families affected by Desanto Shinawi Syndrome may benefit from behavioral and emotional support. This may include working with a mental health professional or counselor to address any emotional challenges or behavioral issues that may arise. Family support groups and community resources may also be helpful for families navigating the challenges of this condition.

It is important for parents to work closely with their child's healthcare providers and specialists to develop a comprehensive treatment plan that addresses all aspects of their child's care. Ongoing monitoring and regular follow-up appointments can help ensure that the child's needs are being met and that any necessary adjustments are made to their treatment plan.

VIII.Special institutions and Hospitals

Baylor College of Medicine

This hospital has a Neurofibromatosis Clinic and a Genetics Clinic that can diagnose and treat rare genetic disorders like DeSanto-Shinawi Syndrome.

Houston, TX

+1 (832) 822-1000

Boston Children's Hospital

This hospital has a Neurofibromatosis Clinic and a Genetics Clinic that can diagnose and treat rare genetic disorders like DeSanto-Shinawi Syndrome.

Boston, MA

+1 (617) 355-6000

Radboud University Medical Center

This hospital has a Clinical Genetics department that can diagnose and treat rare genetic disorders like DeSanto-Shinawi Syndrome.

Nijmegen, Netherlands

+31 (0)24 361 31 11

Children's Hospital of Philadelphia

This hospital has a Neurofibromatosis Clinic and a Genetics Clinic that can diagnose and treat rare genetic disorders like DeSanto-Shinawi Syndrome.

Philadelphia, PA

+1 (215) 590-1000

Great Ormond Street Hospital

A world-renowned children's hospital with a genetics and rare diseases department. They offer comprehensive care for children with genetic conditions and have a dedicated research center.

London, UK

+44 20 7405 9200

University Hospitals of Geneva

This hospital has a Clinical Genetics department that can diagnose and treat rare genetic disorders like DeSanto-Shinawi Syndrome.

Genève, Switzerland

+41 22 372 33 11

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IX. Support Resources

If your child has been diagnosed with Desanto Shinawi Syndrome, you are not alone. There are various organizations and support networks dedicated to providing resources and support to families affected by the condition.

One such organization is the Desanto Shinawi Syndrome Foundation, which aims to support families and individuals affected by the condition. The foundation offers resources such as information on research studies, educational materials, and support groups for families.

Other organizations, such as the National Down Syndrome Society and Global Down Syndrome Foundation, also provide resources and support for families with children who have Desanto Shinawi Syndrome. These organizations offer educational resources, advocacy initiatives, and access to medical and financial assistance.

In addition to these organizations, there are various government programs and resources that may be available to families with children with Desanto Shinawi Syndrome. These include early intervention services, which provide therapy and support for children with developmental delays, and financial assistance programs for families with low incomes or children with disabilities.

It is important to connect with these resources and support networks as early as possible to ensure that your child receives the best care and support available.

X. Online Resources

GeneReviews

This website provides a comprehensive review of Desanto-Shinawi syndrome. It includes information on diagnosis, clinical features, management, and genetic counseling.

RareDiseases

This website provides a comprehensive overview of Desanto-Shinawi syndrome, including information on symptoms, diagnosis, and treatment options. It also includes a list of resources for individuals and families affected by the condition.

OMIM

OMIM is a database of human genes and genetic disorders. It provides detailed information on the genetics of Desanto-Shinawi syndrome, including mutations in the CASK gene that cause the condition.

CASK Disorders

This website provides information on disorders caused by mutations in the CASK gene, including Desanto-Shinawi syndrome. It includes information on clinical features, diagnosis, and management.

NIH Genetic and Rare Diseases Information Center

This website provides an overview of Desanto-Shinawi syndrome, including information on symptoms, diagnosis, and available treatments. It also includes resources for individuals and families affected by the condition.

Orphanet

Orphanet is a European database dedicated to rare diseases. It includes information on Desanto-Shinawi syndrome such as clinical signs, diagnostic methods, and available treatments.

Genetics Home Reference

This website provides an overview of Desanto-Shinawi syndrome, including information on its genetic cause, inheritance, and clinical features. It also includes a list of related genes and genetic testing resources.

Genetic and Rare Diseases Information Center (GARD)

GARD provides information on rare diseases, including Desanto-Shinawi syndrome. It includes information on diagnosis, symptoms, and available treatments. It also includes resources for individuals and families affected by the condition.

National Institute of Neurological Disorders and Stroke (NINDS)

NINDS provides information on neurological disorders, including Desanto-Shinawi syndrome. It includes information on symptoms, diagnosis, and treatment options.

Baylor College of Medicine

The Baylor College of Medicine provides information on Desanto-Shinawi syndrome, including its genetic cause and clinical features. It also includes information on available research and clinical trials related to the condition.

XI. Facebook Support Groups

DSS Parents

A closed Facebook group for parents and caregivers of individuals with Desanto Shinawi Syndrome to connect, share information, and offer support.
Facebook Group

DSSFamilies

A Facebook group for families of individuals with Desanto Shinawi Syndrome to connect and share information, resources, and support.
Facebook Group

Desanto-Shinawi Syndrome

A public Facebook page that provides updates on research, advocacy efforts, and events related to Desanto Shinawi Syndrome.
Facebook Group

RareShare Desanto-Shinawi Syndrome Community

A forum on the RareShare platform for individuals and families affected by Desanto Shinawi Syndrome to share information and support each other.
Facebook Group

Desanto Shinawi Syndrome

A subreddit community on Reddit where individuals and families affected by Desanto Shinawi Syndrome can connect, share information, and offer support.
Facebook Group

DeSanto-Shinawi Syndrome Family Forum

A private forum for families of individuals with Desanto Shinawi Syndrome to connect, share information, and support each other.
Facebook Group

Desanto Shinawi Syndrome Support Group

A closed Facebook group for individuals and families affected by Desanto Shinawi Syndrome to connect and offer support to one another.
Facebook Group

DeSanto Shinawi Syndrome Awareness

A public Facebook page that aims to raise awareness about Desanto Shinawi Syndrome through sharing information and resources.
Facebook Group

DeSanto Shinawi Syndrome Support Group

A closed Facebook group for families and caregivers of individuals with Desanto Shinawi Syndrome to share information, offer support, and connect with one another.
Facebook Group

DeSanto Shinawi Syndrome (DSS)

A Facebook page that provides information about Desanto Shinawi Syndrome and raises awareness about the condition.
Facebook Group

XII. Desanto Shinawi Syndrome Further Reading

"The Boy Who Felt Too Much"

Lorenz Wagner

This book tells the story of a boy with a rare genetic disorder, who experiences intense emotions and has difficulty relating to others. It offers insights into understanding the challenges faced by individuals with unique genetic conditions.

"The Parent's Guide to Down Syndrome: Advice, Information, Inspiration, and Support for Raising Your Child from Diagnosis through Adulthood"

Jen Jacob and Mardra Sikora

Although this book is specifically about Down syndrome, it offers useful information for parents of children with any genetic condition. It covers topics such as early intervention, medical care, education, and advocacy.

"The Self-Advocate's Guide to a Successful Life: Strategies for Independence, Self-Advocacy, and Community Participation"

Barb Trader, Kate Fialkowski, and V. R. Ferose

This book is aimed at individuals with disabilities and their families, and provides practical advice on how to live an independent and fulfilling life. It covers topics such as self-advocacy, employment, relationships, and community participation.

"Genetic Disorders Sourcebook"

Karen Bellenir

This comprehensive guide provides information on various genetic disorders, including Desanto Shinawi Syndrome. It covers topics such as diagnosis, treatment, and research, as well as resources for support and advocacy.

"Understanding Your Genetic Genealogy: Discovering the Roots of Your DNA"

Anne Hart

This book provides an overview of genetic genealogy and how it can be used to explore family history and ancestry. It may be of interest to parents who want to learn more about their child's genetic condition and how it relates to their family history.

"Different: The Story of an Outside-the-Box Kid and the Mom Who Loved Him"

Sally Clarkson and Nathan Clarkson

This memoir tells the story of a mother and her son who has multiple developmental disabilities, including autism and sensory processing disorder. It offers a candid look at the joys and challenges of raising a child with unique needs.

"Supporting Positive Behavior in Children and Teens with Down Syndrome: The Respond but Don't React Method"

David Stein

Although this book is specifically about Down syndrome, the strategies it offers for supporting positive behavior may be applicable to children with other genetic conditions. It covers topics such as communication, routines, and positive reinforcement.

"The Mind's Eye"

Oliver Sacks

This book is a collection of essays about the experiences of individuals with various neurological conditions. Although it is not specifically about Desanto Shinawi Syndrome, it may offer insights into the experiences of individuals with unique genetic conditions.

XIII. Conclusion

In conclusion, Desanto Shinawi Syndrome is a rare genetic condition that affects young children. While the exact causes of the condition are still being researched, it is important for parents to understand the potential symptoms and challenges associated with the condition.

Early diagnosis and intervention can greatly improve outcomes for children with Desanto Shinawi Syndrome, and there are various medical and therapeutic options available to support families. Additionally, there are organizations and support networks that can provide assistance and resources for families affected by the condition.

While living with Desanto Shinawi Syndrome can present many challenges, it is important for families to remain hopeful for the future and the potential for new research and treatment options.

Important Note: This article is intended for informational purposes only and should not be used as a substitute for professional medical advice, diagnosis, or treatment. Parents and caregivers of children with Desanto Shinawi Syndrome should always consult with their healthcare provider and other professionals to develop a personalized treatment plan.

🌟 Unlock Your baby's Potential! 🌟

Is your child facing developmental challenges or special needs? Anat Furstenberg, our expert in special needs development, is offering a 30-minutes FREE  online session to help you navigate this journey.

πŸš€ Discover Solutions: Gain valuable insights into your child's unique needs and learn practical tools to support their development.

🀝 Personalized Guidance: Anat will work hand-in-hand with you to create a plan tailored to your child's growth and progress.

πŸ‘©β€πŸ‘¦ Empowerment: Be part of your child's progress and witness amazing transformations right at home!

🌟You Are NOT Alone Anymore 🌟

Sign up now to secure your FREE 30 minute session with Anat!

πŸ—“οΈ Limited spots available.

My Baby Age
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