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)
