Frontofacionasal dysplasia

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Synonyms: Gollop syndrome

A rare genetic disease characterized by variable multiple congenital craniofacial anomalies including brachycephaly cranium bifidum occultum hypertelorism midface hypoplasia nasal hypoplasia or cleft lip/palate among others as well as abnormalities of the eyes and eyelids. Encephalocele and spina bifida have also been reported in association.

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 May 2024

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Frontofacionasal dysplasia?

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Clinical Trials

For a list of clinical trials in this disease area, please click here.