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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