MCID: CHN071
MIFTS: 15

Chondrodysplasia Punctata, Autosomal Dominant

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chondrodysplasia Punctata, Autosomal Dominant

MalaCards integrated aliases for Chondrodysplasia Punctata, Autosomal Dominant:

Name: Chondrodysplasia Punctata, Autosomal Dominant 58 74
Autosomal Dominant Chondrodysplasia Punctata 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
chondrodysplasia punctata, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Chondrodysplasia Punctata, Autosomal Dominant

Disease Ontology : 12 A chondrodysplasia punctata that is characterized by abnormal facies and stippling of the limbs, associated with vitamin K-related teratogenicity, has material basis in autosomal dominant inheritance.

MalaCards based summary : Chondrodysplasia Punctata, Autosomal Dominant, is also known as autosomal dominant chondrodysplasia punctata. Affiliated tissues include bone, and related phenotypes are frontal bossing and scoliosis

Description from OMIM: 118650

Related Diseases for Chondrodysplasia Punctata, Autosomal Dominant

Diseases in the Chondrodysplasia Punctata Syndrome family:

Chondrodysplasia Punctata, Autosomal Dominant

Symptoms & Phenotypes for Chondrodysplasia Punctata, Autosomal Dominant

Human phenotypes related to Chondrodysplasia Punctata, Autosomal Dominant:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 33 HP:0002007
2 scoliosis 33 HP:0002650
3 cataract 33 HP:0000518
4 coarse hair 33 HP:0002208
5 epiphyseal stippling 33 HP:0010655
6 talipes equinovarus 33 HP:0001762
7 hip contracture 33 HP:0003273
8 sparse hair 33 HP:0008070
9 knee flexion contracture 33 HP:0006380
10 vitamin k deficiency 33 HP:0011892
11 moderate postnatal growth retardation 33 HP:0008855
12 hypoplasia of the nasal bone 33 HP:0004646
13 hyperkeratosis with erythema 33 HP:0007390

Symptoms via clinical synopsis from OMIM:

58
Head:
frontal bossing

Hair:
coarse hair
sparse hair

Skin:
hyperkeratosis with erythema

Growth:
moderate growth deficiency

Joints:
flexion contractures of hips and knees

Misc:
relatively good prognosis

Spine:
scoliosis

Limbs:
talipes equinovarus
limb asymmetry

Eyes:
cataracts

Skel:
chondrodysplasia punctata

Facies:
koala bear facies
nasal bone hypoplasia

Radiology:
predominantly epiphyseal, frequently asymmetric calcifications and dysplastic skeletal changes

Clinical features from OMIM:

118650

Drugs & Therapeutics for Chondrodysplasia Punctata, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Chondrodysplasia Punctata, Autosomal Dominant

Genetic Tests for Chondrodysplasia Punctata, Autosomal Dominant

Anatomical Context for Chondrodysplasia Punctata, Autosomal Dominant

MalaCards organs/tissues related to Chondrodysplasia Punctata, Autosomal Dominant:

42
Bone

Publications for Chondrodysplasia Punctata, Autosomal Dominant

Variations for Chondrodysplasia Punctata, Autosomal Dominant

Expression for Chondrodysplasia Punctata, Autosomal Dominant

Search GEO for disease gene expression data for Chondrodysplasia Punctata, Autosomal Dominant.

Pathways for Chondrodysplasia Punctata, Autosomal Dominant

GO Terms for Chondrodysplasia Punctata, Autosomal Dominant

Sources for Chondrodysplasia Punctata, Autosomal Dominant

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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