Neurofaciodigitorenal syndrome

Orpha code: 2673OMIM code: 256690

Definicja

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.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Freire Maia-Pinheiro-Opitz syndrome
Zespół Freire Maia, Pinheiro i Opitza
Kod ORPHA
2673
Kod OMIM
256690
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

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