CEDNIK syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: CEDNIK SYNDROME
Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome
Number of Symptoms 63
OrphanetNr: 66631
OMIM Id: 609528
ICD-10: Q82.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 7 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal ichthyosis syndrome with fatal disease course
 -Rare genetic disease
 -Rare skin disease
Autosomal recessive isolated diffuse palmoplantar keratoderma
 -Rare genetic disease
 -Rare skin disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000100) Nephrotic syndrome Occasional [Orphanet] 83 / 7739
2
 (HPO:0000093) Proteinuria Occasional [Orphanet] 169 / 7739
3
 (HPO:0000268) Dolichocephaly Occasional [Orphanet] 144 / 7739
4
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
5
 (HPO:0000431) Wide nasal bridge 290 / 7739
6
 (HPO:0000253) Progressive microcephaly 37 / 7739
7
 (HPO:0000457) Depressed nasal ridge Occasional [Orphanet] 85 / 7739
8
 (HPO:0000426) Prominent nasal bridge Very frequent [Orphanet] 121 / 7739
9
 (HPO:0000276) Long face Very frequent [Orphanet] 109 / 7739
10
 (HPO:0005280) Depressed nasal bridge 381 / 7739
11
 (HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
12
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
13
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
14
 (HPO:0000478) Abnormality of the eye Occasional [Orphanet] 126 / 7739
15
 (HPO:0007766) Optic disc hypoplasia 7 / 7739
16
 (HPO:0000496) Abnormality of eye movement Frequent [Orphanet] 79 / 7739
17
 (HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
18
 (HPO:0001271) Polyneuropathy 56 / 7739
19
 (HPO:0010864) Intellectual disability, severe 120 / 7739
20
 (HPO:0009830) Peripheral neuropathy Frequent [Orphanet] 206 / 7739
21
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
22
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
23
 (HPO:0003134) Abnormality of peripheral nerve conduction Frequent [Orphanet] 38 / 7739
24
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
25
 (HPO:0001315) Reduced tendon reflexes Frequent [Orphanet] 160 / 7739
26
 (HPO:0001284) Areflexia 198 / 7739
27
 (HPO:0001263) Global developmental delay 853 / 7739
28
 (HPO:0008373) Puberty and gonadal disorders Occasional [Orphanet] 156 / 7739
29
 (HPO:0010318) Aplasia/Hypoplasia of the abdominal wall musculature Very frequent [Orphanet] 55 / 7739
30
 (HPO:0002239) Gastrointestinal hemorrhage Occasional [Orphanet] 97 / 7739
31
 (HPO:0001508) Failure to thrive 454 / 7739
32
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
33
 (HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
34
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
35
 (HPO:0000982) Palmoplantar keratoderma 40 / 7739
36
 (HPO:0002140) Ischemic stroke Occasional [Orphanet] 70 / 7739
37
 (HPO:0001635) Congestive heart failure Occasional [Orphanet] 232 / 7739
38
 (HPO:0001638) Cardiomyopathy Occasional [Orphanet] 192 / 7739
39
 (HPO:0001697) Abnormality of the pericardium Occasional [Orphanet] 52 / 7739
40
 (HPO:0002421) Poor head control 23 / 7739
41
 (HPO:0001252) Muscular hypotonia 990 / 7739
42
 (OMIM) Broad, flat nasal root 4 / 7739
43
 (OMIM) Roving eye movements 3 / 7739
44
 (OMIM) Abnormal lamellar granule maturation 1 / 7739
45
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
46
 (HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 187 / 7739
47
 (MedDRA:10062005) Histology 2 / 7739
48
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739
49
 (OMIM) Trunk hypotonia 1 / 7739
50
 (HPO:0003593) Infantile onset 249 / 7739
51
 (HPO:0002126) Polymicrogyria 64 / 7739
52
 (OMIM) MRI shows defects of the corpus callosum 1 / 7739
53
 (OMIM) Abnormal distribution of glucosylceramides 1 / 7739
54
 (HPO:0002536) Abnormal cortical gyration Frequent [Orphanet] 72 / 7739
55
 (OMIM) Major developmental milestones are not attained 1 / 7739
56
 (OMIM) Hypoplastic optic disc 3 / 7739
57
 (HPO:0001302) Pachygyria 60 / 7739
58
 (OMIM) Spinous, granular, and stratum corneum layers contain clear vesicles 1 / 7739
59
 (OMIM) Hypertelorism, mild 11 / 7739
60
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
61
 (HPO:0002539) Cortical dysplasia 19 / 7739
62
 (HPO:0001273) Abnormality of the corpus callosum 20 / 7739
63
 (HPO:0400004) Long ear Occasional [Orphanet] 94 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma) syndrome refers to a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, and facial dysmorphism, as well as palmoplantar keratoderma and late-onset ichthyosis. Brain ...
Clinical Description OMIM Sprecher et al. (2005) described a clinical syndrome in 7 individuals from 2 unrelated consanguineous Arab Muslim families living in northern Israel. After a normal birth, the patients presented during the first 4 months of life with failure ...
Molecular genetics OMIM In affected patients with CEDNIK syndrome, Sprecher et al. (2005) identified a homozygous mutation in the SNAP29 gene (604202.0001).

In a brother and sister from a consanguineous Pakistani family who had features consistent with CEDNIK syndome, ...