Mesomelic dysplasia, Kantaputra type

General Information (adopted from Orphanet):

Synonyms, Signs: MDK
Mesomelic dysplasia, Thai type
Kantaputra mesomelic dysplasia
Number of Symptoms 18
OrphanetNr: 1836
OMIM Id: 156232
613681
ICD-10: Q78.8
UMLs: C1835009
MeSH: C535547
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Mesomelic and rhizo-mesomelic dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003027) Mesomelia Very frequent [Orphanet] 58 / 7739
2
 (HPO:0005048) Synostosis of carpal bones Frequent [Orphanet] 39 / 7739
3
 (HPO:0001850) Abnormality of the tarsal bones Very frequent [Orphanet] 40 / 7739
4
 (HPO:0000921) Missing ribs Occasional [Orphanet] 62 / 7739
5
 (HPO:0002967) Cubitus valgus Occasional [Orphanet] 49 / 7739
6
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
7
 (HPO:0003028) Abnormality of the ankles Very frequent [Orphanet] 14 / 7739
8
 (HPO:0009702) Carpal synostosis 26 / 7739
9
 (HPO:0009465) Ulnar deviation of finger Frequent [Orphanet] 48 / 7739
10
 (HPO:0002991) Abnormality of the fibula Very frequent [Orphanet] 49 / 7739
11
 (HPO:0003422) Vertebral segmentation defect Occasional [Orphanet] 95 / 7739
12
 (HPO:0008368) Tarsal synostosis 21 / 7739
13
 (HPO:0002986) Radial bowing 27 / 7739
14
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
15
 (HPO:0003063) Abnormality of the humerus Very frequent [Orphanet] 36 / 7739
16
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
17
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
18
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: