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GTR Home > Conditions/Phenotypes > Neurofaciodigitorenal syndrome

Neurofaciodigitorenal syndrome

Synonyms
Freire-Maia Pinheiro Opitz syndrome

Summary

A multiple developmental anomalies syndrome with characteristics of 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. [from SNOMEDCT_US]

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