Autosomal dominant chondrodysplasia punctata

General Information (adopted from Orphanet):

Synonyms, Signs: CHONDRODYSPLASIA PUNCTATA DUE TO WARFARIN TERATOGENICITY, INCLUDED
Chondrodysplasia punctata, Sheffield type
Number of Symptoms 19
OrphanetNr: 79344
OMIM Id: 118650
ICD-10: Q77.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Non-rhizomelic chondrodysplasia punctata
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0002007) Frontal bossing 366 / 7739
2
(HPO:0004646) Hypoplasia of the nasal bone 2 / 7739
3
(HPO:0000518) Cataract 454 / 7739
4
(HPO:0001762) Talipes equinovarus 309 / 7739
5
(HPO:0006380) Knee flexion contracture 56 / 7739
6
(HPO:0002650) Scoliosis 705 / 7739
7
(HPO:0003273) Hip contracture 30 / 7739
8
(HPO:0010655) Epiphyseal stippling 32 / 7739
9
(HPO:0008855) Moderate postnatal growth retardation 1 / 7739
10
(HPO:0007390) Hyperkeratosis with erythema 1 / 7739
11
(HPO:0002208) Coarse hair 58 / 7739
12
(HPO:0008070) Sparse hair 94 / 7739
13
(HPO:0011892) Vitamin K deficiency 4 / 7739
14
(OMIM) Koala bear facies 1 / 7739
15
(OMIM) Moderate growth deficiency 1 / 7739
16
(MedDRA:10070670) Limb asymmetry 1 / 7739
17
(OMIM) Predominantly epiphyseal, frequently asymmetric calcifications and dysplastic skeletal changes 1 / 7739
18
(OMIM) Flexion contractures of hips and knees 1 / 7739
19
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sheffield et al. (1976) reported several children from Australia with a mild form of chondrodysplasia punctata. The patients presented during infancy with abnormal facies, and punctate calcification in the calcanerum and sometimes other sites. Growth and developmental progress ...