Warsaw breakage syndrome

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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 September 2023.

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Warsaw breakage syndrome?

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Advocacy Organizations

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.


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Clinical Trials

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