BRESEK syndrome

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BRESEK syndrome2016-11-24T22:10:47+00:00

BRESEK syndrome

GENETICS

Definition An X-linked condition (OMIM:300404) defined by the BRESEK acronym:

• Brain anomalies

• Retardation–mental & growth

• Ectodermal dysplasia

• Skeletal defects

• Ear deformity & deafness/Eye hypoplasia

• Kidney dysplasia/hypoplasia

It is similar to BRESHECK syndrome but lacks Hirschsprung’s disease and cleft palate/cryptorchidism. Because both are caused by a mutation in MBTPS2, separation of the two is pointless. 

Reference www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300404

Am J Med Genet A. 2011 Nov 21.

doi: 10.1002/ajmg.a.34373.

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