Ichthyosis-cheek-eyebrow syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: ICE SYNDROME
Sidransky-Feinstein-Goodman syndrome
Number of Symptoms 17
OrphanetNr: 2267
OMIM Id: 146720
ICD-10:
UMLs: C1840283
MeSH: C536084
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal ichthyosis syndrome with other associated signs
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000218) High palate 356 / 7739
2
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
3
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
4
 (HPO:0010620) Malar prominence Very frequent [Orphanet] 7 / 7739
5
 (HPO:0005338) Sparse lateral eyebrow Very frequent [Orphanet] 21 / 7739
6
 (HPO:0000293) Full cheeks Very frequent [Orphanet] 85 / 7739
7
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
8
 (HPO:0001555) Asymmetry of the thorax Very frequent [Orphanet] 15 / 7739
9
 (HPO:0000765) Abnormality of the thorax 64 / 7739
10
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
11
 (HPO:0000767) Pectus excavatum Very frequent [Orphanet] 244 / 7739
12
 (HPO:0002751) Kyphoscoliosis 131 / 7739
13
 (HPO:0001763) Pes planus 176 / 7739
14
 (HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
15
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
16
 (OMIM) Prominent and full cheeks 1 / 7739
17
 (OMIM) Anterior chest deformity 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: