Rare Disorders and Syndromes
If you have received a prenatal test result for your child, we are here to support you. Our services are free. Talk with one of our trained consultants to determine if parent care coordination would be helpful for you.
Unborn babies can be affected by rare genetic and nongenetic syndromes. Syndromes that affect fewer than 200,000 individuals in the United States are considered “rare.” Genetic syndromes result from deletions or mutations of chromosomes, while non-genetic syndromes are caused by external factors, such as maternal use of certain medications. Some examples of rare genetic syndromes include Williams syndrome, fetal akinesia syndrome, and fragile X syndrome. Some examples of non-genetic syndromes include fetal valproate syndrome, fetal hydantoin syndrome, fetal retinoid syndrome, fetal minoxidil syndrome, and amniotic band syndrome.
Screening and Diagnosis:
The diagnostic process may look different depending on the disorder. Specialized testing may be available. We encourage you to speak with your medical team for more information.
Treatment/Prognosis:
A specialist may offer treatment options to manage symptoms.
Medical advances are continually improving treatment options and outcomes so consulting with specialists and major children’s hospitals may be beneficial to finding the best possible care.
Palliative care programs are available to support infants and their families for parents who may not be able to pursue medical interventions for their child with a life-limiting condition. They may ask their medical team for more information about perinatal palliative care programs that are available to them.
Below are additional support resources that may be helpful.
Sources:
Williams syndrome symptoms, facial features and other symptoms (fdna.health)
Diagnosing Williams Syndrome | Williams Syndrome Association (williams-syndrome.org)
FAQs About Rare Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program (nih.gov)
https://www.marchofdimes.org/baby/rare-birth-defects.aspx
https://www.cdc.gov/ncbddd/birthdefects/types.html
Fragile X Screening | Women’s Health | HCP | GenPath Diagnostics
Prenatal Diagnosis - Rett Syndrome News
Diagnosis-Specific Support
We envision a world where people with albinism are empowered to be fully-functioning members of society, where barriers and the stigma of difference no longer exist, and where people with albinism have a quality of life that is rewarding, dignified and fulfilling.NOAH’s mission is to act as a conduit for accurate and authoritative information about all aspects of living with albinism and to provide a place where people with albinism and their families in the U.S. and Canada can find acceptance, support and fellowship.
The purpose of the Sanfilippo Children’s Foundation is to drive research for a world without Sanfilippo Syndrome.
Team Sanfilippo Foundation is a non profit medical research foundation founded in 2008 by parents of children with Sanfilippo Syndrome. Our mission is to fund potential therapies that can be in clinical trials in the near future. We support Biotech, pharmaceutical and research centers with potential therapies that are underfunded and provide assistance with connecting families to companies that need information for ongoing clinical work.
The Isabel Jurado Foundation, Inc. was incorporated in October 2005, and received 501(c)(3) status in November 2006. It was founded in honor and memory of those children, past and present, who have suffered the deadly impact of a genetic disorder called Sanfilippo Syndrome. It is the sincere hope of The Isabel Jurado Foundation that through research and medical treatment this terrible disease can be cured in the not too distant future.
We are Cure Sanfilippo Foundation and we have a clear mission: to advocate for and fund research that could give children with Sanfilippo syndrome a chance at a better life by finding a treatment or cure for the disease. And we remain passionately focused on that goal.
Jonah’s Just Begun-Foundation to Cure Sanfilippo Inc. is a 501(c)3. The foundation raises funds then distributes them to academic research groups focused on finding treatments for Sanfilippo Syndrome, MPS III.
The Abby Grace Foundation is a non-profit organization created to improve the lives of children diagnosed with the rare, genetic, terminal disorder know as Sanfilippo Syndrome. The Foundation strives to promote awareness and contribute to Scientific Research, with a goal of finding a cure for Sanfilippo Syndrome.
Established in 2015 by Carrie Hunsucker and Taylor Gurganus, The Bohring-Opitz Syndrome Foundation, Inc.- a 501c3 non-profit organization- is dedicated to improving the lives of people affected by BOS through the establishment of a medical advisory board, awareness initiatives, and parent/patient advocacy.
The National Parents First Call Center is a first-of-its-kind, comprehensive full-service professional center that serves expectant parents and medical providers as well as Down syndrome organization leaders and parent volunteers. The center includes two branches — the National Prenatal First Call Center and the First Call National Training Center. The first branch, the National Prenatal First Call Center, caters to the “First Call” needs of expectant parents and medical professionals when they first learn of a suspected or confirmed Down syndrome diagnosis. The second, the First Call National Training Center, offers a replication model, providing our own expertise to help train other Down syndrome organizations interested in launching or enhancing a Parents First Call program in their local community.s, and become valued members of welcoming communities.
The CdLS Foundation is a family support organization that exists to ensure early and accurate diagnosis of CdLS, promote research into the causes and manifestations of the syndrome, and help people with a diagnosis of CdLS, and others with similar characteristics, make informed decisions throughout their lives.
Facebook Groups:
PrenatalDiagnosis.org wants to provide you with a wide range of support including links to helpful Facebook groups. However, we cannot verify the exact content that you will find on Facebook pages and groups, which vary widely by moderator, participants, and topics.
This group was created in honor of my son, Tayce Cru Smith. He was born with Miller Dieker Syndrome on March 17, 2004. I want to help other families with our experience and be able to learn from others.
The GFPD Parent Support Group is a space for parents of individuals with peroxisomal disorders in the Zellweger spectrum and the related single enzyme protein deficiencies to connect, share their experiences and provide/receive peer to peer support. The mission of the GFPD is to improve the lives of individuals with peroxisomal disorders by funding research, championing scientific collaboration, and empowering families and professionals through educational programs and support services.