Neurofaciodigitorenal syndrome

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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://www.orphadata.org. Data version July 2024

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Neurofaciodigitorenal syndrome?

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Advocacy Organizations

Help Hope Live

Help Hope Live supports community-based fundraising for people with unmet medical expenses and related costs due to cell and organ transplants or catastrophic injuries and illnesses. These efforts play a critical role in helping clients access the care and equipment they need to heal, live, and thrive. Unlock a powerful and safe way to raise funds for medical needs with Help Hope Live. They provide one-on-one fundraising guidance, a customizable Campaign Page, bill pay support, and additional benefits based on their 501(c)(3) nonprofit status.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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