Donnai-Barrow syndrome

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Donnai-Barrow syndrome2016-11-25T15:40:31+00:00

Donnai-Barrow syndrome 

GENETICS

An autosomal recessive condition (OMIM:222448) characterised by major congenital malformations including agenesis of the corpus callosum, congenital diaphragmatic hernia, facial dysmorphism, ocular defects, sensorineural hearing loss and developmental delay.

DBS and FOAR were first described as distinct disorders, with proteinuria and absence of diaphragmatic hernia and corpus callosum anomalies present only in FOAR. They are now recognised as representing the same condition.

Molecular pathology Defects of LRP2, which encodes an endocytic receptor that is critical for the reuptake of numerous ligands, including lipoproteins, sterols, vitamin-binding proteins, and hormones, has a role in cell signaling, and may participate in regulating PTH and PTH-related protein release, cause Donnai-Barrow syndrome. 

Synonyms DBS/FOAR syndrome, diaphragmatic hernia—exomphalos—absent corpus callosum—hyperteolorism—myopia—sensorineural deafness—and proteinuria, facio-oculo-acoustico-renal syndrome, FOAR syndrome

References http://www.uniprot.org/uniprot/P98164

http://www.omim.org/entry/222448

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