CEDNIK syndrome
| Classification according to ICD-10 | |
|---|---|
| Q82.8 | Other specified congenital skin malformations - hereditary palmoplantar keratosis |
| ICD-10 online (WHO version 2019) | |
The CEDNIK syndrome is one of the very rare congenital syndromes with keratoderma , a cornification disorder affecting the skin ( hyperkeratosis ) and additional developmental disorders of the nervous system .
The term is an acronym for CE rebrale D ysgenesie, N europathie , I chthyose and palmo-plantar K eratoderm.
The first description was made in 2005 by the Israeli doctor Eli Sprecher .
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive . So far, around 10 patients from two families have been described.
root cause
The disease is based on mutations in the SNAP29 gene on chromosome region 22q11.2, which codes for the SNAPE protein.
Clinical manifestations
Clinical criteria are:
- Manifestation in newborn or early childhood
- typical facial dysmorphism with hypertelorism , broad nasal root, antimongoloid eyelid cleft
- lack of head and trunk control
- wandering eye movements
Individual evidence
- ↑ a b CEDNIK syndrome. In: Orphanet (Rare Disease Database).
- ^ E. Spokesman, A. Ishida-Yamamoto, M. Mizrahi-Koren, D. Rapaport, D. Goldsher, M. Indelman, O. Topaz, I. Chefetz, H. Keren, TJ O'brien, D. Bercovich, S. Shalev, D. Geiger, R. Bergman, M. Horowitz, H. Mandel: 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. In: American Journal of Human Genetics . Vol. 77, No. 2, August 2005, pp. 242-251, doi: 10.1086 / 432556 , PMID 15968592 , PMC 1224527 (free full text).
- ↑ Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome. In: Online Mendelian Inheritance in Man . (English)
- ↑ Genodermatoses
