MCID: CRN070
MIFTS: 21

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 58 77 54 60 74
Cdo Syndrome 58 54 60
Corneal Dystrophy, Epithelial, with Skin and Skeletal Changes 58 54
Stern Lubinsky Durrie Syndrome 54 74
Corneal Dystrophy Epithelial and Short Stature 54
Stern-Lubinsky-Durrie Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
corneodermatoosseous syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
corneodermatoosseous syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Corneodermatoosseous Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3194Disease definitionA rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkertosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984.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 carious teeth and photophobia

Wikipedia : 77 Corneodermatosseous syndrome is an autosomal dominant condition with onset in infancy, characterized by... more...

Description from OMIM: 122440

Related Diseases for Corneodermatoosseous Syndrome

Symptoms & Phenotypes for Corneodermatoosseous Syndrome

Human phenotypes related to Corneodermatoosseous Syndrome:

60 33 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 carious teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000670
2 photophobia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000613
3 palmoplantar keratoderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000982
4 short palm 60 33 hallmark (90%) Very frequent (99-80%) HP:0004279
5 corneal dystrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001131
6 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156
7 abnormality of dental enamel 60 33 hallmark (90%) Very frequent (99-80%) HP:0000682
8 severe short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0003510
9 absent fingernail 60 33 hallmark (90%) Very frequent (99-80%) HP:0001817
10 abnormality of the metacarpal bones 60 33 frequent (33%) Frequent (79-30%) HP:0001163
11 gingivitis 60 33 frequent (33%) Frequent (79-30%) HP:0000230
12 erythema 60 33 frequent (33%) Frequent (79-30%) HP:0010783
13 abnormality of finger 60 33 frequent (33%) Frequent (79-30%) HP:0001167
14 premature birth 60 33 frequent (33%) Frequent (79-30%) HP:0001622
15 abnormal fingernail morphology 33 frequent (33%) HP:0001231
16 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
17 nyctalopia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000662
18 hemeralopia 60 33 occasional (7.5%) Occasional (29-5%) HP:0012047
19 abnormality of the dentition 33 HP:0000164
20 short stature 33 HP:0004322
21 abnormality of the fingernails 60 Frequent (79-30%)
22 thickened skin 60 Very frequent (99-80%)
23 abnormality of the hand 60 Frequent (79-30%)
24 short distal phalanx of finger 33 HP:0009882
25 erythroderma 33 HP:0001019
26 onycholysis 33 HP:0001806
27 palmoplantar hyperkeratosis 33 HP:0000972
28 hypomature dental enamel 33 HP:0011085

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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