Neurofaciodigitorenal syndrome

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Neurofaciodigitorenal syndrome

Synonyms: Freire Maia-Pinheiro-Opitz syndrome

Neurofaciodigitorenal syndrome is a rare multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly hypotonia intellectual disability abnormal EEG) dysmorphic facial features (high prominent forehead grooved nasal tip ptosis ear anomalies) and acrorenal defects (such as triphalangism broad halluces unilateral renal agenesis). Additionally intrauterine growth restriction short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997.

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: // Data version September 2023.

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