ORPHA:66631
CEDNIK syndrome
Synonyms: Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, neurocutaneous disease characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Patients present with a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CEDNIK syndrome | Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome |
| fr | Syndrome CEDNIK | Syndrome de dysgénésie cérébrale-neuropathie-ichtyose-kératodermie palmoplantaire |
| de | CEDNIK-Syndrom | Zerebrale Dysgenesie-Neuropathie-Ichthyose-Palmoplantarkeratose-Syndrom |
| es | Síndrome CEDNIK | Síndrome de disgenesia cerebral-neuropatía-ictiosis-queratodermia palmoplantar |
| it | Sindrome CEDNIK | Sindrome disgenesia cerebrale-neuropatia-ittiosi-cheratoderma palmoplantare |
| nl | CEDNIK-syndroom | Cerebrale dysgenesie - neuropathie - ichthyosis - keratodermie van handpalm of voetzool-syndroom · Cerebrale dysgenesie - neuropathie - ichthyosis - palmoplantaire keratodermie-syndroom |
| pt | Síndrome CEDNIK | Síndrome de disgenesia cerebral-neuropatia-ictiose-queratodermia palmo-plantar |
| pl | Zespół CEDNIK | Zespół dysgenezja mózgu-neuropatia-rybia łuska rogowiec dłoni i stóp |
| cs | CEDNIK syndrom | Syndrom zahrnující cerebrální dysgenezi, neuropatii, ichtiózu a palmoplantární keratoderma |
| uk | Синдром CEDNIK | Синдром церебрального дисгенезу - невропатії - іхтіозу - долонно-підошовної кератодермії |
| zh | CEDNIK综合征 | 大脑发育不全-神经病-鱼鳞病-掌跖角化综合征 |
| tr | CEDNIK sendromu | Serebral disgenezi-nöropati-iktiyoz-palmoplantar keratoderma sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609528 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | LD27.2 | NTBT | index | validated |
| MONDO | 0012290 | E | validated | |
| MeSH | C537943 | E | validated | |
| UMLS | C1836033 | E | validated | |
| GARD | 9940 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:281241Autosomal ichthyosis syndrome with fatal disease course
rare genetic diseases; rare skin diseases - ORPHA:307804Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
rare genetic diseases; rare skin diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SNAP29 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11133 | ENSG00000099940 | 604202 | 22q11.21 | synaptosome associated protein 29 | 15968592[PMID]_21073448[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 25958742[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
33 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| HP:0007447 | Diffuse palmoplantar kyperkeratosis | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0001263 | Global developmental delay | |
| HP:0000316 | Hypertelorism | |
| HP:0008064 | Ichthyosis | |
| HP:0001249 | Intellectual disability | |
| HP:0000276 | Long face | |
| HP:0000252 | Microcephaly | |
| HP:0002421 | Poor head control | |
| HP:0000426 | Prominent nasal bridge | |
| Frequent (79-30%) | ||
| HP:0001273 | Abnormal corpus callosum morphology | |
| HP:0000496 | Abnormality of eye movement | |
| HP:0003134 | Abnormality of peripheral nerve conduction | |
| HP:0001284 | Areflexia | |
| HP:0000648 | Optic atrophy | |
| HP:0001302 | Pachygyria | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0002126 | Polymicrogyria | |
| Occasional (29-5%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000504 | Abnormality of vision | |
| HP:0001635 | Congestive heart failure | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0000268 | Dolichocephaly | |
| HP:0000135 | Hypogonadism | |
| HP:0000400 | Macrotia | |
| HP:0000100 | Nephrotic syndrome | |
| HP:0000093 | Proteinuria | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0004322 | Short stature | |
| HP:0001297 | Stroke | |
Run the differential on the 11 obligate / very frequent terms
Annotation source: 15968592[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/66631
- This record as JSON: /data/d/66631.json