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MEDNIK syndrome

Synonyms
ERYTHROKERATODERMIA VARIABILIS, KAMOURASKA TYPE
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

MEDNIK syndrome is a severe multisystem disorder characterized by impaired intellectual development, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma (summary by Montpetit et al., 2008). Patients with MEDNIK exhibit distinct dysmorphic features, including high forehead, upslanting palpebral fissures, depressed nasal bridge, and low-set ears, as well as growth retardation and moderate to severe intellectual disability, with brain atrophy on imaging. Other features include sensorineural deafness, enteropathy with congenital diarrhea, abnormalities of copper metabolism associated with liver disease, and ichthyosis, hyperkeratosis, and erythroderma. Peripheral neuropathy has also been observed in adult patients (Martinelli et al., 2013). MEDNIK syndrome shows phenotypic similarities to CEDNIK syndrome (609528). [from OMIM]

Available tests

24 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (24 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AP19, CLAPS1, EKV3, MEDNIK, SIGMA1A, AP1S1
    Summary: adaptor related protein complex 1 subunit sigma 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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