MESOMELIC DYSPLASIA, KANTAPUTRA TYPE

General Information (adopted from Orphanet):

Synonyms, Signs: MESOMELIC DYSPLASIA WITH ANKLE, CARPAL, AND TARSAL SYNOSTOSIS
MESOMELIC DYSPLASIA, THAI TYPE
MMDK
MDK
Number of Symptoms 16
OrphanetNr:
OMIM Id: 156232
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003027) Mesomelia 58 / 7739
2
(HPO:0002986) Radial bowing 27 / 7739
3
(OMIM) Hands deviate ulnarly 1 / 7739
4
(OMIM) Malformed calcaneus 1 / 7739
5
(OMIM) Normal phalanges 2 / 7739
6
(OMIM) Tarsal synostoses 1 / 7739
7
(OMIM) Shortened tibia 2 / 7739
8
(OMIM) Tibial-fibula synostoses 1 / 7739
9
(OMIM) Malformed talus 1 / 7739
10
(OMIM) Broad, shortened radius 1 / 7739
11
(OMIM) Fibulo-calcaneal complex 1 / 7739
12
(OMIM) Tibial-talar complex 1 / 7739
13
(OMIM) Fibula shortening 3 / 7739
14
(OMIM) Broad, severely shortened ulna 1 / 7739
15
(OMIM) Carpal synostoses 1 / 7739
16
(OMIM) Normal metacarpals 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM In a large Thai family, Kantaputra et al. (1992) described a distinct type of mesomelic dysplasia characterized by bilateral, symmetric marked shortening of the ulna and shortening and bowing of the radius. The proximal fibula was unusually short, ...
Molecular genetics OMIM - Exclusion Studies

Because they had identified microdeletions on chromosome 8q13 involving the SULF1 (610012) and SLCO5A1 (613543) genes in patients with the mesomelic-synostoses syndrome (600383), Isidor et al. (2010) analyzed SULF1 and SLCO5A1 in 2 ...