MEND syndrome

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MEND syndrome

Synonyms: Male EBP disorder with neurological defects

A rare genetic syndromic sterol biosynthesis disorder affecting males characterized by skin manifestations including collodion membrane ichthyosis and patchy hypopigmentary lesions associated with severe neurological involvement (e.g. intellectual disability delayed psychomotor development seizures hydrocephalus cerebellar/corpus callosum hypoplasia Dandy-Walker malformation hypotonia) and craniofacial dysmorphism (large anterior fontanelle telecanthus hypertelorism microphthalmia prominent 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 be associated.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version December 2023

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MEND syndrome?

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Advocacy Organizations

Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.