MCID: MSM016
MIFTS: 27

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 57 59 13 73
Mdk 57 53 59
Mesomelic Dysplasia Kantaputra Type 53 29
Mesomelic Dysplasia, Thai Type 57 59
Kantaputra Mesomelic Dysplasia 53 59
Mmdk 57 53
Mesomelic Dysplasia with Ankle, Carpal, and Tarsal Synostosis 57
Mesomelic Dysplasia with Ankle Carpal and Tarsal Synostosis 53
Mesomelic Dysplasia Thai Type 53

Characteristics:

Orphanet epidemiological data:

59
mesomelic dysplasia, kantaputra type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
mesomelic dysplasia, kantaputra type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 156232
Orphanet 59 ORPHA1836
UMLS via Orphanet 74 C1835009
ICD10 via Orphanet 34 Q78.8
MESH via Orphanet 45 C535547
MedGen 42 C1835009
UMLS 73 C1835009

Summaries for Mesomelic Dysplasia, Kantaputra Type

NIH Rare Diseases : 53 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.

MalaCards based summary : Mesomelic Dysplasia, Kantaputra Type, also known as mdk, is related to epilepsy, familial temporal lobe, 4 and small cell cancer of the lung. An important gene associated with Mesomelic Dysplasia, Kantaputra Type is MMDK (Mesomelic Dysplasia, Kantaputra Type). Affiliated tissues include bone, and related phenotypes are short stature and cubitus valgus

OMIM : 57 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 11.0
2 small cell cancer of the lung 9.9
3 lung cancer 9.9
4 glioma 9.9

Symptoms & Phenotypes for Mesomelic Dysplasia, Kantaputra Type

Symptoms via clinical synopsis from OMIM:

57
Skeletal Limbs:
radial bowing
mesomelic limb shortening
broad, shortened radius
broad, severely shortened ulna
shortened tibia
more
Skeletal Feet:
malformed calcaneus
malformed talus
tibial-talar complex
fibulo-calcaneal complex
tarsal synostoses

Skeletal Hands:
hands deviate ulnarly
carpal synostoses
normal metacarpals
normal phalanges


Clinical features from OMIM:

156232

Human phenotypes related to Mesomelic Dysplasia, Kantaputra Type:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 cubitus valgus 59 32 occasional (7.5%) Occasional (29-5%) HP:0002967
3 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
4 abnormality of the ribs 59 32 occasional (7.5%) Occasional (29-5%) HP:0000772
5 abnormality of the ankles 59 32 hallmark (90%) Very frequent (99-80%) HP:0003028
6 vertebral segmentation defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0003422
7 synostosis of carpal bones 59 32 frequent (33%) Frequent (79-30%) HP:0005048
8 camptodactyly of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0100490
9 ulnar deviation of finger 59 32 frequent (33%) Frequent (79-30%) HP:0009465
10 tarsal synostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008368
11 talipes 59 32 occasional (7.5%) Occasional (29-5%) HP:0001883
12 mesomelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003027
13 abnormality of the humerus 59 32 hallmark (90%) Very frequent (99-80%) HP:0003063
14 dumbbell-shaped humerus 59 32 hallmark (90%) Very frequent (99-80%) HP:0005009
15 radial bowing 32 HP:0002986
16 abnormality of the fibula 59 Very frequent (99-80%)
17 carpal synostosis 32 HP:0009702
18 abnormality of fibula morphology 32 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 29

Anatomical Context for Mesomelic Dysplasia, Kantaputra Type

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

41
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
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
4
Mesomelic dysplasia, Kantaputra type: clinical report, prenatal diagnosis, no evidence for SHOX deletion/mutation. ( 15264287 )
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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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