Kindler syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: KS
Poikiloderma of Kindler
Number of Symptoms 40
OrphanetNr: 2908
OMIM Id:
ICD-10: Q81.8
UMLs: C0406557
MeSH: C536321
MedDRA:
Snomed: 238836000

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Hereditary acrokeratotic poikiloderma of Kindler-Weary
 -Rare genetic disease
 -Rare skin disease
Inherited epidermolysis bullosa
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0010786) Urinary tract neoplasm Occasional [Orphanet] 7 / 7739
2
 (HPO:0100587) Abnormality of the preputium Frequent [Orphanet] 5 / 7739
3
 (HPO:0000795) Abnormality of the urethra Occasional [Orphanet] 38 / 7739
4
 (HPO:0000492) Abnormality of the eyelid Occasional [Orphanet] 41 / 7739
5
 (HPO:0000929) Abnormality of the skull Occasional [Orphanet] 53 / 7739
6
 (HPO:0006323) Premature loss of primary teeth Frequent [Orphanet] 18 / 7739
7
 (HPO:0000704) Periodontitis Frequent [Orphanet] 24 / 7739
8
 (HPO:0000262) Turricephaly Occasional [Orphanet] 38 / 7739
9
 (HPO:0000230) Gingivitis Frequent [Orphanet] 31 / 7739
10
 (HPO:0000670) Carious teeth Frequent [Orphanet] 145 / 7739
11
 (HPO:0000682) Abnormality of dental enamel Frequent [Orphanet] 102 / 7739
12
 (HPO:0100825) Cheilitis Very frequent [Orphanet] 20 / 7739
13
 (HPO:0100533) Inflammatory abnormality of the eye Occasional [Orphanet] 70 / 7739
14
 (HPO:0000481) Abnormality of the cornea Occasional [Orphanet] 124 / 7739
15
 (HPO:0002015) Dysphagia Frequent [Orphanet] 301 / 7739
16
 (HPO:0000924) Abnormality of the skeletal system Occasional [Orphanet] 114 / 7739
17
 (HPO:0001163) Abnormality of the metacarpal bones Occasional [Orphanet] 149 / 7739
18
 (HPO:0000772) Abnormality of the ribs Occasional [Orphanet] 146 / 7739
19
 (HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
20
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
21
 (HPO:0002037) Inflammation of the large intestine Occasional [Orphanet] 25 / 7739
22
 (HPO:0002575) Tracheoesophageal fistula Frequent [Orphanet] 54 / 7739
23
 (HPO:0004378) Abnormality of the anus Occasional [Orphanet] 34 / 7739
24
 (HPO:0002592) Gastric ulcer Frequent [Orphanet] 39 / 7739
25
 (HPO:0008069) Neoplasm of the skin Occasional [Orphanet] 84 / 7739
26
 (HPO:0001000) Abnormality of skin pigmentation Frequent [Orphanet] 105 / 7739
27
 (HPO:0010783) Erythema Very frequent [Orphanet] 138 / 7739
28
 (HPO:0008388) Abnormality of the toenails Frequent [Orphanet] 28 / 7739
29
 (HPO:0008065) Aplasia/Hypoplasia of the skin Very frequent [Orphanet] 81 / 7739
30
 (HPO:0200037) Skin vesicle Very frequent [Orphanet] 102 / 7739
31
 (HPO:0000958) Dry skin Frequent [Orphanet] 152 / 7739
32
 (HPO:0200042) Skin ulcer Frequent [Orphanet] 138 / 7739
33
 (HPO:0000992) Cutaneous photosensitivity Very frequent [Orphanet] 75 / 7739
34
 (HPO:0000962) Hyperkeratosis Occasional [Orphanet] 216 / 7739
35
 (HPO:0001029) Poikiloderma Very frequent [Orphanet] 23 / 7739
36
 (HPO:0000987) Atypical scarring of skin Occasional [Orphanet] 58 / 7739
37
 (HPO:0001903) Anemia Occasional [Orphanet] 289 / 7739
38
 (HPO:0001602) Laryngeal stenosis Occasional [Orphanet] 21 / 7739
39
 (HPO:0003394) Muscle cramps Occasional [Orphanet] 106 / 7739
40
 (HPO:0030350) Erythematous papule Occasional [Orphanet] 123 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: