MCID: MSM016
MIFTS: 28

Mesomelic Dysplasia, Kantaputra Type

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Mesomelic Dysplasia, Kantaputra Type

MalaCards integrated aliases for Mesomelic Dysplasia, Kantaputra Type:

Name: Mesomelic Dysplasia, Kantaputra Type 53 55 13 69
Mdk 53 49 55
Mesomelic Dysplasia Kantaputra Type 49 28
Mesomelic Dysplasia, Thai Type 53 55
Kantaputra Mesomelic Dysplasia 49 55
Mmdk 53 49
Mesomelic Dysplasia with Ankle, Carpal, and Tarsal Synostosis 53
Mesomelic Dysplasia with Ankle Carpal and Tarsal Synostosis 49
Mesomelic Dysplasia Thai Type 49

Characteristics:

Orphanet epidemiological data:

55
mesomelic dysplasia, kantaputra type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
patients walk on tips of toes with dorsal foot deviated laterally


HPO:

31
mesomelic dysplasia, kantaputra type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 156232
Orphanet 55 ORPHA1836
MESH via Orphanet 42 C535547
UMLS via Orphanet 70 C1835009
ICD10 via Orphanet 33 Q78.8
MedGen 39 C1835009
UMLS 69 C1835009

Summaries for Mesomelic Dysplasia, Kantaputra Type

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1836Disease definitionMesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.EpidemiologyIt has been described in five families.Clinical descriptionIn the upper limbs, the ulnae are very short, and the radii are bowed. The distal humerus has a dumbbell shape. The hands show progressive flexion contractures of the proximal interphalangeal joints. In the lower limbs, feet are fixed in plantar flexion so that the patients walk on their toetips. The prominent distal fibula on the ventral aspect is common and considered a hallmark. Fibula, talus and calcaneus are small and fibulo-calcaneal synostosis is a characteristic feature. Carpal and tarsal synostoses are observed in some individuals. All affected patients have normal craniofacial features and intelligence.EtiologyUsing microarray-based comparative genomic hybridization (array-CGH), two microduplications have been identified on chromosome 2 (2q31.1-q31.2), separated by a segment of normal copy number. The more centromeric duplication encompasses the HOXD cluster and it is proposed that duplications cause dysregulation of HOXD gene expression.Genetic counselingIn all families, the condition is transmitted as an autosomal dominanttrait.Visit the Orphanet disease page for more resources. Last updated: 11/15/2010

MalaCards based summary : Mesomelic Dysplasia, Kantaputra Type, also known as mdk, is related to epilepsy, familial temporal lobe, 4 and critical illness polyneuropathy, and has symptoms including short stature, cubitus valgus and clinodactyly of the 5th finger. An important gene associated with Mesomelic Dysplasia, Kantaputra Type is MMDK (Mesomelic Dysplasia, Kantaputra Type). Affiliated tissues include bone.

OMIM : 53 Kantaputra mesomelic dysplasia (MMDK) is a rare, autosomal dominant skeletal disease characterized by symmetric marked shortening of the upper and lower limbs. The ulnae are very short and the radii are bowed. The distal humerus has a dumbbell shape, whereas the hands are relatively normal but show progressive flexion contractures of the proximal interphalangeal joints. Carpal and tarsal synostoses are observed in some individuals. In the lower limbs, the feet are fixed in plantar flexion with the sole facing backward, causing 'ballerina-like standing.' The prominent distal fibula on the ventral aspect is considered to be the signature finding of the syndrome. The calcaneus is small or missing, and a small fibula and talus as well as fibulocalcaneal synostosis are characteristic features. The tibial bony knot articulates with the proximal end of the fibula (summary by Kantaputra et al., 2010). See 613681 for discussion of the chromosome 2q31.1 duplication syndrome, which shows cytogenetic and phenotypic overlap with MMDK. (156232)

Related Diseases for Mesomelic Dysplasia, Kantaputra Type

Diseases related to Mesomelic Dysplasia, Kantaputra Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epilepsy, familial temporal lobe, 4 10.9
2 critical illness polyneuropathy 10.9
3 small cell cancer of the lung 9.9
4 lung cancer 9.9
5 glioma 9.9

Graphical network of the top 20 diseases related to Mesomelic Dysplasia, Kantaputra Type:



Diseases related to Mesomelic Dysplasia, Kantaputra Type

Symptoms & Phenotypes for Mesomelic Dysplasia, Kantaputra Type

Symptoms via clinical synopsis from OMIM:

53
SkeletalLimbs:
radial bowing
mesomelic limb shortening
broad, shortened radius
broad, severely shortened ulna
shortened tibia
more
SkeletalFeet:
malformed calcaneus
malformed talus
tibial-talar complex
fibulo-calcaneal complex
tarsal synostoses

SkeletalHands:
hands deviate ulnarly
carpal synostoses
normal metacarpals
normal phalanges


Clinical features from OMIM:

156232

Human phenotypes related to Mesomelic Dysplasia, Kantaputra Type:

55 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 cubitus valgus 55 31 occasional (7.5%) Occasional (29-5%) HP:0002967
3 clinodactyly of the 5th finger 55 31 frequent (33%) Frequent (79-30%) HP:0004209
4 abnormality of the ribs 55 31 occasional (7.5%) Occasional (29-5%) HP:0000772
5 abnormality of the ankles 55 31 hallmark (90%) Very frequent (99-80%) HP:0003028
6 vertebral segmentation defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0003422
7 synostosis of carpal bones 55 31 frequent (33%) Frequent (79-30%) HP:0005048
8 camptodactyly of finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0100490
9 ulnar deviation of finger 55 31 frequent (33%) Frequent (79-30%) HP:0009465
10 tarsal synostosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0008368
11 talipes 55 31 occasional (7.5%) Occasional (29-5%) HP:0001883
12 mesomelia 55 31 hallmark (90%) Very frequent (99-80%) HP:0003027
13 abnormality of the humerus 55 31 hallmark (90%) Very frequent (99-80%) HP:0003063
14 dumbbell-shaped humerus 55 31 hallmark (90%) Very frequent (99-80%) HP:0005009
15 radial bowing 31 HP:0002986
16 abnormality of the fibula 55 Very frequent (99-80%)
17 carpal synostosis 31 HP:0009702
18 abnormality of fibula morphology 31 hallmark (90%) HP:0002991

Drugs & Therapeutics for Mesomelic Dysplasia, Kantaputra Type

Search Clinical Trials , NIH Clinical Center for Mesomelic Dysplasia, Kantaputra Type

Genetic Tests for Mesomelic Dysplasia, Kantaputra Type

Genetic tests related to Mesomelic Dysplasia, Kantaputra Type:

# Genetic test Affiliating Genes
1 Mesomelic Dysplasia Kantaputra Type 28

Anatomical Context for Mesomelic Dysplasia, Kantaputra Type

MalaCards organs/tissues related to Mesomelic Dysplasia, Kantaputra Type:

38
Bone

Publications for Mesomelic Dysplasia, Kantaputra Type

Articles related to Mesomelic Dysplasia, Kantaputra Type:

# Title Authors Year
1
Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q. ( 20648051 )
2010
2
A case of mesomelic dysplasia Kantaputra type--new findings and a new diagnostic approach. ( 19471182 )
2008
3
Mesomelic dysplasia, Kantaputra type: clinical report, prenatal diagnosis, no evidence for SHOX deletion/mutation. ( 15264287 )
2004
4
Thirteen-year-follow up report on mesomelic dysplasia, Kantaputra type (MDK), and comments on the paper of the second reported family of MDK by Shears et al. ( 15211646 )
2004
5
The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32. ( 9609995 )
1998

Variations for Mesomelic Dysplasia, Kantaputra Type

Copy number variations for Mesomelic Dysplasia, Kantaputra Type from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 139082 2 176506582 176507065 Duplication KIAA1715 Mesomelic dysplasia Kantaputra
2 139184 2 176973781 176980910 Duplication Mesomelic dysplasia Kantaputra
3 139186 2 176973862 176980178 Duplication Mesomelic dysplasia Kantaputra
4 139193 2 176985080 176986597 Duplication MTX2 Mesomelic dysplasia Kantaputra
5 139220 2 177342108 177342602 Duplication NFE2L2 Mesomelic dysplasia Kantaputra
6 139260 2 177856721 177857706 Duplication Mesomelic dysplasia Kantaputra

Expression for Mesomelic Dysplasia, Kantaputra Type

Search GEO for disease gene expression data for Mesomelic Dysplasia, Kantaputra Type.

Pathways for Mesomelic Dysplasia, Kantaputra Type

GO Terms for Mesomelic Dysplasia, Kantaputra Type

Sources for Mesomelic Dysplasia, Kantaputra Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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