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SNAP29-sEDD

Previously: Cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma (CEDNIK) syndrome

sEDD Gene: SNAP29 AR

Onset: Infancy

Pathway: Membrane sorting/vesicular trafficking

Category Paper: sEDD Paper

Key Clinical Clues

Progressive polygonal scaling and skin thickening with PPK; fine, sparse hair.

Additional Extracutaneous Features

Cerebral dysgenesis/microcephaly, neuropathy, sensorineural deafness, optic nerve atrophy; cachexia; may be lethal during first decade of life.

References

Sprecher E, Ishida-Yamamoto A, Mizrahi-Koren M et al. A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. Am J Hum Genet 2005; 77:242-51.

Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer