KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs: KID SYNDROME, AUTOSOMAL DOMINANT
Number of Symptoms 29
OrphanetNr:
OMIM Id: 148210
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002745) Oral leukoplakia 17 / 7739
2
(HPO:0000221) Furrowed tongue 24 / 7739
3
(HPO:0000653) Sparse eyelashes 58 / 7739
4
(HPO:0001128) Trichiasis 4 / 7739
5
(HPO:0001097) Keratoconjunctivitis sicca 25 / 7739
6
(HPO:0000618) Blindness 124 / 7739
7
(HPO:0000495) Recurrent corneal erosions 20 / 7739
8
(HPO:0000613) Photophobia 158 / 7739
9
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
10
(HPO:0006380) Knee flexion contracture 56 / 7739
11
(HPO:0002987) Elbow flexion contracture 64 / 7739
12
(HPO:0001761) Pes cavus 225 / 7739
13
(HPO:0002860) Squamous cell carcinoma 18 / 7739
14
(HPO:0005406) Recurrent bacterial skin infections 7 / 7739
15
(HPO:0000966) Hypohidrosis 41 / 7739
16
(HPO:0007468) Perifollicular hyperkeratosis 4 / 7739
17
(HPO:0005595) Generalized hyperkeratosis 14 / 7739
18
(HPO:0000962) Hyperkeratosis 216 / 7739
19
(HPO:0008399) Circumungual hyperkeratosis 4 / 7739
20
(OMIM) Limbal stem cell insufficiency 1 / 7739
21
(OMIM) Congenital erythrokeratodermia 1 / 7739
22
(OMIM) Tight heel cords 2 / 7739
23
(OMIM) Nail dystrophy, variable 1 / 7739
24
(OMIM) Superficial and deep corneal stromal vascularization with scarring 1 / 7739
25
(OMIM) Mild lamellar ichthyosis 1 / 7739
26
(OMIM) Scant eyebrows 1 / 7739
27
(OMIM) Thickened and keratinized eyelids 1 / 7739
28
(OMIM) Recurrent cutaneous mycoses 1 / 7739
29
(OMIM) Scant scalp hair 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Grob et al. (1987) described the disorder in father and daughter. In the father the disorder was complicated by fatal skin cancer. A second instance of familial occurrence was described by Nazzaro et al. (1990) in mother and ...
Molecular genetics OMIM Van Steensel et al. (2002) reported the detection of a connexin-26 mutation in a patient with sporadic KID syndrome. They sequenced connexin genes that are known or expected to be involved in skin disorders sometimes accompanied by deafness: ...
Population genetics OMIM Caceres-Rios et al. (1996) stated that approximately 70 cases, most of them sporadic, had been reported.