MEND syndrome

Orpha code: 401973OMIM code: 300960

Definicja

MEND syndrome is 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.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Male EBP disorder with neurological defects
Zaburzenie EBP u płci męskiej z objawami neurologicznym
Kod ORPHA
401973
Kod OMIM
300960
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

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