MCID: CRN070
MIFTS: 22

Corneodermatoosseous Syndrome

Categories: Bone diseases, Eye diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Corneodermatoosseous Syndrome

MalaCards integrated aliases for Corneodermatoosseous Syndrome:

Name: Corneodermatoosseous Syndrome 57 76 53 59 73
Cdo Syndrome 57 53 59
Corneal Dystrophy, Epithelial, with Skin and Skeletal Changes 57 53
Stern Lubinsky Durrie Syndrome 53 73
Corneal Dystrophy Epithelial and Short Stature 53
Stern-Lubinsky-Durrie Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
corneodermatoosseous syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
corneodermatoosseous syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Corneodermatoosseous Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3194Disease definitionStern-Lubinsky-Durrie syndrome is characterised by corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems, and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominanttrait.Visit the Orphanet disease page for more resources.

MalaCards based summary : Corneodermatoosseous Syndrome, is also known as cdo syndrome. Affiliated tissues include skin, eye and bone, and related phenotypes are hearing impairment and carious teeth

Wikipedia : 76 Corneodermatosseous syndrome (also known as "CDO syndrome") is an autosomal dominant condition with... more...

Description from OMIM: 122440

Related Diseases for Corneodermatoosseous Syndrome

Symptoms & Phenotypes for Corneodermatoosseous Syndrome

Symptoms via clinical synopsis from OMIM:

57
Growth:
short stature

Limbs:
brachydactyly
short distal phalanges

Skin:
palmoplantar hyperkeratosis
generalized erythroderma
erythematous scaly skin

Teeth:
soft teeth
early tooth decay

Eyes:
photophobia
corneal dystrophy
burning and watering of eyes

Misc:
premature birth

Nails:
distal onycholysis

Radiology:
medullary narrowing of hand bones


Clinical features from OMIM:

122440

Human phenotypes related to Corneodermatoosseous Syndrome:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
2 carious teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000670
3 photophobia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000613
4 palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000982
5 short palm 59 32 hallmark (90%) Very frequent (99-80%) HP:0004279
6 corneal dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001131
7 abnormality of the fingernails 59 32 frequent (33%) Frequent (79-30%) HP:0001231
8 nyctalopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000662
9 abnormality of the metacarpal bones 59 32 frequent (33%) Frequent (79-30%) HP:0001163
10 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
11 abnormality of dental enamel 59 32 hallmark (90%) Very frequent (99-80%) HP:0000682
12 gingivitis 59 32 frequent (33%) Frequent (79-30%) HP:0000230
13 erythema 59 32 frequent (33%) Frequent (79-30%) HP:0010783
14 severe short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003510
15 abnormality of finger 59 32 frequent (33%) Frequent (79-30%) HP:0001167
16 premature birth 59 32 frequent (33%) Frequent (79-30%) HP:0001622
17 absent fingernail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001817
18 hemeralopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0012047
19 abnormality of the dentition 32 HP:0000164
20 short stature 32 HP:0004322
21 thickened skin 59 Very frequent (99-80%)
22 abnormality of the hand 59 Frequent (79-30%)
23 short distal phalanx of finger 32 HP:0009882
24 erythroderma 32 HP:0001019
25 onycholysis 32 HP:0001806
26 palmoplantar hyperkeratosis 32 HP:0000972
27 hypomature dental enamel 32 HP:0011085

Drugs & Therapeutics for Corneodermatoosseous Syndrome

Search Clinical Trials , NIH Clinical Center for Corneodermatoosseous Syndrome

Genetic Tests for Corneodermatoosseous Syndrome

Anatomical Context for Corneodermatoosseous Syndrome

MalaCards organs/tissues related to Corneodermatoosseous Syndrome:

41
Skin, Eye, Bone

Publications for Corneodermatoosseous Syndrome

Variations for Corneodermatoosseous Syndrome

Expression for Corneodermatoosseous Syndrome

Search GEO for disease gene expression data for Corneodermatoosseous Syndrome.

Pathways for Corneodermatoosseous Syndrome

GO Terms for Corneodermatoosseous Syndrome

Sources for Corneodermatoosseous Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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