Warsaw breakage syndrome
Synonyms: WABS
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by pre- and postnatal growth restriction microcephaly mild to severe intellectual disability sensorineural hearing loss with cochlear abnormalities and facial dysmorphism (with small and elongated face bifrontal narrowing epicanthus short nose small nares dysplastic ears and short neck). Additional variable features include limb malformations cardiac anomalies abnormal skin pigmentation and recurrent infections among others.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Warsaw breakage syndrome?
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Advocacy Organizations
Cache DNA
At Cache, we are on a mission to store the biomolecules of today in order to unlock the possibilities of tomorrow. Our vision is to create a scalable, sustainable, and standardized platform for reliable storage and access of biomolecules by combining chemistry, biology, automation, and computational tools to support patient advocacy groups worldwide and better connect samples to insights.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
My Faulty Gene
My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.
My Little Sunshine Foundation
My Little Sunshine is a non-profit foundation dedicated to educating people about the importance of fertility preservation and making fertility resources accessible to all.
SALUS
Educate and provide resources to POC with Rare Cancers
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
warsaw breakage syndrome foundation
Connect with families. Support Research and Drug Development. Educate and Advocate for WABS and the whole Rare Community.
Clinical Trials
For a list of clinical trials in this disease area, please click here.