Mesomelic dysplasia Kantaputra type
Alternate names[edit | edit source]
MMDK; MDK; Mesomelic dysplasia with ankle carpal and tarsal synostosis; Kantaputra mesomelic dysplasia; Mesomelic dysplasia Thai type
Definition[edit | edit source]
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.
Epidemiology[edit | edit source]
It has been described in five families.
Cause[edit | edit source]
- Using 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.
Inheritance[edit | edit source]
In all families, the condition is transmitted as an autosomal dominant trait.
Signs and symptoms[edit | edit source]
- In 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.
Clinical presentation[edit | edit source]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
80%-99% of people have these symptoms
- Abnormality of fibula morphology(Abnormality of the calf bone)
- Abnormality of the ankles
- Abnormality of the humerus
- Camptodactyly of finger(Permanent flexion of the finger)
- Dumbbell-shaped humerus(Dumbbell-shaped long bone in upper arm)
- Mesomelia(Disproportionately short middle portion of limb)
- Short stature(Decreased body height)
- Tarsal synostosis(Fused ankle bones)
30%-79% of people have these symptoms
- Clinodactyly of the 5th finger(Permanent curving of the pinkie finger)
- Synostosis of carpal bones(Fusion of wrist bones)
- Ulnar deviation of finger(Finger bends toward pinky)
5%-29% of people have these symptoms
- Abnormality of the ribs(Rib abnormalities)
- Cubitus valgus(Outward turned elbows)
- Talipes
- Vertebral segmentation defect
Diagnosis[edit | edit source]
Detection is already possible prenatally by fine ultrasound .
Treatment[edit | edit source]
NIH genetic and rare disease info[edit source]
Mesomelic dysplasia Kantaputra type is a rare disease.
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