Mesomelic dysplasia Kantaputra type

Alternate names

MMDK; MDK; Mesomelic dysplasia with ankle carpal and tarsal synostosis; Kantaputra mesomelic dysplasia; Mesomelic dysplasia Thai type

Definition

Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.

Epidemiology

It has been described in five families.

Cause

• 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

File:Autosomal dominant - en.svg

Autosomal dominant pattern, a 50/50 chance.

In all families, the condition is transmitted as an autosomal dominant trait.

Signs and symptoms

• 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

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

Detection is already possible prenatally by fine ultrasound .

NIH genetic and rare disease info

• NIH info on Mesomelic dysplasia Kantaputra type

Mesomelic dysplasia Kantaputra type is a rare disease.

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