Stern-Lubinsky-Durrie syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: CDO SYNDROME
CORNEAL DYSTROPHY, EPITHELIAL, WITH SKIN AND SKELETAL CHANGES
Corneo-dermato-osseous syndrome
Number of Symptoms 31
OrphanetNr: 3194
OMIM Id: 122440
ICD-10:
UMLs: C1852542
C2931506
MeSH: C536444
C537488
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
Syndromic corneal dystrophy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000164) Abnormality of the teeth 291 / 7739
2
 (HPO:0000682) Abnormality of dental enamel Very frequent [Orphanet] 102 / 7739
3
 (HPO:0000230) Gingivitis Frequent [Orphanet] 31 / 7739
4
 (HPO:0000670) Carious teeth Very frequent [Orphanet] 145 / 7739
5
 (HPO:0000613) Photophobia Very frequent [Orphanet] 158 / 7739
6
 (HPO:0001131) Corneal dystrophy Very frequent [Orphanet] 56 / 7739
7
 (HPO:0000504) Abnormality of vision Occasional [Orphanet] 22 / 7739
8
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
9
 (HPO:0000972) Palmoplantar hyperkeratosis 41 / 7739
10
 (HPO:0009882) Short distal phalanx of finger 125 / 7739
11
 (HPO:0001163) Abnormality of the metacarpal bones Frequent [Orphanet] 149 / 7739
12
 (HPO:0001155) Abnormality of the hand Frequent [Orphanet] 54 / 7739
13
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
14
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
15
 (HPO:0001622) Premature birth Frequent [Orphanet] 100 / 7739
16
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
17
 (HPO:0001019) Erythroderma 24 / 7739
18
 (HPO:0010783) Erythema Frequent [Orphanet] 138 / 7739
19
 (HPO:0001806) Onycholysis 20 / 7739
20
 (HPO:0001072) Thickened skin Very frequent [Orphanet] 87 / 7739
21
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
22
 (HPO:0001231) Abnormality of the fingernails Frequent [Orphanet] 116 / 7739
23
 (HPO:0001804) Hypoplastic fingernail Very frequent [Orphanet] 62 / 7739
24
 (OMIM) Soft teeth 1 / 7739
25
 (OMIM) Medullary narrowing of hand bones 1 / 7739
26
 (OMIM) Distal onycholysis 2 / 7739
27
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
28
 (OMIM) Erythematous scaly skin 1 / 7739
29
 (OMIM) Early tooth decay 1 / 7739
30
 (OMIM) Burning and watering of eyes 1 / 7739
31
 (MedDRA:10072883) Brachydactyly 153 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Stern et al. (1984) described a kindred in which 7 persons in 3 generations had a seemingly undescribed syndrome that combined unique corneal changes with diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, premature birth and dental problems. ...