ICHTHYOSIFORM ERYTHRODERMA, CORNEAL INVOLVEMENT, AND DEAFNESS

General Information (adopted from Orphanet):

Synonyms, Signs: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE
KID SYNDROME, AUTOSOMAL RECESSIVE
DESMONS SYNDROME
Number of Symptoms 18
OrphanetNr:
OMIM Id: 242150
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001097) Keratoconjunctivitis sicca 25 / 7739
2
(HPO:0000509) Conjunctivitis 47 / 7739
3
(HPO:0000563) Keratoconus 25 / 7739
4
(HPO:0000545) Myopia 286 / 7739
5
(HPO:0000613) Photophobia 158 / 7739
6
(HPO:0000633) Decreased lacrimation 6 / 7739
7
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
8
(HPO:0001249) Intellectual disability 1089 / 7739
9
(HPO:0001394) Cirrhosis 102 / 7739
10
(HPO:0004322) Short stature 1232 / 7739
11
(HPO:0001508) Failure to thrive 454 / 7739
12
(HPO:0001596) Alopecia 162 / 7739
13
(HPO:0001019) Erythroderma 24 / 7739
14
(HPO:0008064) Ichthyosis 108 / 7739
15
(HPO:0001808) Fragile nails 21 / 7739
16
(OMIM) Hepatic glycogen storage 1 / 7739
17
(OMIM) Short, fragile nails 1 / 7739
18
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Desmons et al. (1971) described 3 sibs with ichthyosiform erythroderma and deafness among the 6 children of a first-cousin marriage. Corneal involvement, which is frequent in sporadic cases, was not noted by Desmons et al. (1971); on the ...