Branchioskeletogenital syndrome

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Branchioskeletogenital syndrome

Synonyms: BSG syndrome | Elsahy-Waters syndrome

Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability distinctive craniofacial features (including brachycephaly facial asymmetry marked hypertelorism blepharochalasis proptosis a broad nose with concave nasal ridge and bulbous nasal tip midface hypoplasia bifid uvula or partial cleft palate and prognathism) progressive dental anomalies (dentigerous cysts radicular dentin dysplasia and early tooth loss) vertebral fusions (particularly of C2-C3) and hypospadias. Hearing loss is an additional observed feature.

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 February 2024

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Branchioskeletogenital syndrome?

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