MEND syndrome

Definition:

MEND syndrome (male EBP disorder with neurological defects) is an X-linked recessive condition in males with a phenotype remarkable for Dandy-Walker like congenital brain malformation, cataracts, collodion skin and cryptorchidism. Additional findings of hydrocephalus, dysplasia of the corpus callosum, cardiovascular, craniofacial and skeletal anomalies were regularly seen in patients. MEND syndrome is caused by EBP mutations. EBP is an integral membrane protein located mainly in the endoplasmic reticulum, which has dual functions as an enzyme converting cholestenol into lathosterol and as a high-affinity receptor for anti-ischaemic drugs.

References:

[1]. A W Arnold, et al. Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects). Br J Dermatol. 2012 Jun;166(6):1309-13. [Content Brief]

[2]. Larissa V Furtado, et al. A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. Am J Med Genet A. 2010 Nov;152A(11):2838-44. [Content Brief]

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