CEDNIK syndrome
Findings
No curated finding names CEDNIK syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.
Definition from the Mondo Disease Ontology (MONDO:0012290), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in childhood
HPO, annotations 2026-09-02
Features
40 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AreflexiaHPOHP:0001284
- 7 of 7 reported patients
- Frequent (30% to 79% of cases)
- Cortical dysplasiaHPOHP:0002539
- 4 of 4 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 7 of 7 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- 7 of 7 reported patients · Infantile onset
- Global developmental delayHPOHP:0001263
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 28
- Poor head controlHPOHP:0002421
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Progressive microcephalyHPOHP:0000253
- 7 of 7 reported patients
- Wide nasal bridgeHPOHP:0000431
- 7 of 7 reported patients
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- Diffuse palmoplantar hyperkeratosisHPOHP:0007447
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SNAP29HGNC:11133
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: CEDNIK syndrome
- Also called
- cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome