Diatropic Dysplasia

Diatropic Dysplasia (DD):

Characterised by short limbs, short stature, kyphoscoliosis, generalised joint dysplasia, hand and foot deformities, premature osteoarthritis. Autosomal recessive

High incidence in Finland (1-2% of population are carriers)

Normal intelligence. Joint symptoms can be very disabling.

Due to defect in gene coding for a sulfate transporter protein.

Clinical features:
• prominent cheeks
• flattened nasal bridge
• 50% cleft palete
• Scoliosis
• Flexed contracture at hips

Foot deformities:
• Usually rigid
• Varies from valgus of rearfoot to clubfoot.
• Hallux varus- t/t surgical to remove plantigrade
• 43% addusted and valgus
• 37% equinovarus

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