What are the physical characteristics of Diastrophic Dysplasia?

The physical characteristics of diastrophic dysplasia include a short limbed form of disproportionate short stature. Both joint dislocations and joint contractures can be present. Intelligence is typically average.

Face and Skull:

• Narrow nasal bridge and broad midportion of the nose
• Long and broad philtrum
• High, broad forehead
• Square jaw
• Cleft palate in approximately 50% of children
• Capillary hemangiomas called an "Angel's kiss" can be present in the midforehead region. They will disappear or fade with time.
• In the majority of patients in first 2 weeks of life, cystic swellings of the ear appear but resolve spontaneously, resulting in the characteristic “cauliflower ear” deformity.

Trunk, Chest and Spine:

• Cervical kyphosis in infancy
• Typically scoliosis is not present in infancy, but with age becomes present.

Arms and legs:

• Shortening of limbs
• ‘Hitchhiker’s thumb.’ Due to poor development of the bone supporting the thumb, the main thumb joint deviates outwards
• Limited movement of the fingers due to symphalangism

• Dislocations of the elbow and shoulder
• Dislocated kneecap
• Clubfoot
• Abnormal gait
• Weight bearing on balls of feet and toes with compensatory knee and hip flexion

What are the x-ray characteristics?

The radiographic features of Diastrophic Dysplasia include short and broad long bones of the limbs. The metaphyses are flared and crescent-shaped, and flattened epiphyses are typical. The epiphyses of the proximal tibias are triangular and larger than those of the distal femoral epiphyses. The metacarpals, metatarsals, and phalanges are deformed and shortened. Cervical kyphosis and thoraco-lumbar kyphoscholiosis are characteristic at different ages. There is a moderate narrowing of the interpediculate distances within the lower lumbar segments of spine. The hips are either partially or completely dislocated.

• What are the physical characteristics of Diastrophic Dysplasia?
• How is the diagnosis made?
• Problems in the musculoskeletal system
• Problems elsewhere in the body
• What are things to watch out for?
• References