MEND syndrome Q87.8

MEND syndrome is a rare, X-linked recessive neurocutaneous malformation syndrome caused by a disorder of sterol biosynthesis.

Caused by mutations in the EBP gene (Barboza-Cerda MC et al. 2019).

Clinically, skin manifestations include a collodion membrane at birth, ichthyosis, and patchy hypopigmentation associated with severe neurologic involvement (eg. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphia (large anterior fontanel, telecanthus, hypertelorism, microphthalmos, protruding nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 Toe syndactyly, polydactyly, and kyphosis as well as ophthalmic, cardiac, and urogenital anomalies may also occur.

MEND syndrome is a variant of chondrodysplasia punctata 2 (CDPX2; also known as Conradi-Hünermann-Happle syndrome; OMIM: 302690) that has mutations in the same gene.

1. Arnold AW et al (2012) Conradi-Hünermann-Happle syndrome in males vs MEND syndrome (male EBP disorder with neurological defects). Br J Dermatol 166:1309-1313.
2. Barboza-Cerda MC et al (2019) Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes. Mol Genet Genomic Med 7:e931.
3. de Almeida H Jr et al (2017) MEND syndrome: A Case Report with Scanning Electron Microscopy Findings of the Collodion Membrane. Acta Derm Venereol 97:110-111.