CEDNIK syndrome
Synopsis

Phenotypic variations, such as onset in early childhood rather than in infancy and patients with SNAP29 mutations without dermatologic manifestations, have been described.
The prognosis for this condition is poor, ranging from neonatal lethality to a lifespan of approximately 20 years.
Codes
G60.9 – Hereditary and idiopathic neuropathy, unspecified
Q04.8 – Other specified congenital malformations of brain
Q80.9 – Congenital ichthyosis, unspecified
Q82.8 – Other specified congenital malformations of skin
SNOMEDCT:
722385008 – Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome
Look For
Subscription Required
Diagnostic Pearls
Subscription Required
Differential Diagnosis & Pitfalls
Subscription Required
Best Tests
Subscription Required
Management Pearls
Subscription Required
Therapy
Subscription Required
References
Subscription Required
Last Updated:09/22/2024