MEND syndrome is a rare, X-linked recessive neurocutaneous malformation syndrome caused by a disorder of sterol biosynthesis.
MEND syndromeQ87.8
DefinitionThis section has been translated automatically.
EtiopathogenesisThis section has been translated automatically.
Caused by mutations in the EBP gene (Barboza-Cerda MC et al. 2019).
Clinical featuresThis section has been translated automatically.
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.
Note(s)This section has been translated automatically.
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.
LiteratureThis section has been translated automatically.
- 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.
- 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.
- 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.