Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The FAOR syndrome is an autosomal recessive disorder caused by mutations of the LRP2 gene. The clinical features include diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria.
Endocytotic disturbances of proximal tubular function
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Donnai-Barrow syndrome
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LRP2
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Imerslund-Grasbeck syndrome
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| 1. |
Donnai D et al. (1993) Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder? 
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| 2. |
Devriendt K et al. (1998) Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity.
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| 3. |
Chassaing N et al. (2003) Donnai-Barrow syndrome: four additional patients.
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| 4. |
Kantarci S et al. (2007) Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.
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| 5. |
None (1963) CONGENITAL RENAL DISEASE, DEAFNESS AND MYOPIA IN ONE FAMILY.
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| 6. |
Holmes LB et al. (1972) Syndrome of ocular and facial anomalies, telecanthus, and deafness.
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| 7. |
Gripp KW et al. (1997) Diaphragmatic hernia-exomphalos-hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance.
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| 8. |
Schowalter DB et al. (1997) Facio-oculo-acoustico-renal (FOAR) syndrome: case report and review.
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| 9. |
Orphanet article Orphanet ID 2143
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| 10. |
OMIM.ORG article Omim 222448
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| 11. |
Wikipedia article Wikipedia EN (Donnai–Barrow_syndrome)
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