Chondrodysplasia punctata, tibial-metacarpal type

General Information (adopted from Orphanet):

Synonyms, Signs: CHONDRODYSPLASIA PUNCTATA, MT TYPE
Number of Symptoms 15
OrphanetNr: 79346
OMIM Id: 118651
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:0000457) Depressed nasal ridge 85 / 7739
2
(HPO:0000272) Malar flattening 277 / 7739
3
(HPO:0002832) Calcific stippling 5 / 7739
4
(HPO:0002983) Micromelia 130 / 7739
5
(HPO:0005736) Short tibia 19 / 7739
6
(HPO:0003417) Coronal cleft vertebrae 14 / 7739
7
(HPO:0010041) Short 3rd metacarpal 5 / 7739
8
(HPO:0010655) Epiphyseal stippling 9719382 IBIS 32 / 7739
9
(HPO:0010044) Short 4th metacarpal Occasional [HPO:probinson] 14 / 7739
10
(HPO:0010038) Short 2nd metacarpal 2 / 7739
11
(OMIM) Short second and third or third and fourth metacarpals 1 / 7739
12
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
13
(HPO:0011800) Midface retrusion 221 / 7739
14
(OMIM) Coronal clefts of vertebral bodies 1 / 7739
15
(OMIM) Short limbs 17 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Rittler et al. (1990) described 7 sporadic cases of what appeared to be a new form of chondrodysplasia punctata. Two of the cases had previously been reported by Burck et al. (1980) and Burck (1982). The principal clinical ...