Physical Characteristics of Cartilage Hair Hypoplasia

The physical characteristics of Cartilage Hair Hypoplasia include a short limbed form of disproportionate short stature with fine, sparse hair. Intelligence is typically average.

Face and Skull:

• Relatively average face and skull
• Fine, sparse, and light hair
• Sparse eyebrows and eyelashes

Trunk, Chest and Spine:

• Anterolateral chest deformity
• Prominent sternum
• Moderately flared lower rib cage

Arms and legs:

• Rhizomelic shortening of the limbs
• Limited elbow extension, but otherwise ligamentous laxity

• Short and pudgy hands and feet
• Possible ankle deformity of the, due to the excessive distal length of the fibula
• Mild bowing of the legs
• Flat feet
• Prominent heels

What are the x-ray characteristics?

The major radiographic features in infancy include shortened long tubular bones. The femur is curved with rounded distal epiphyses. Anterior angulation of the sternum and short ribs are also characteristic. The radiographic features in children and adults include short, flared, and irregularly sclerotic metaphyses of tubular bones. Deformities are more prominent in the knee region than in the proximal femur. A postero-lateral subluxation of the radial head is observed in some patients. The fibula is disproportionately long, most notably at the distal end. There is minimal craniocaudal widening of interpediculate distance in lumbar spine. Small sagittal and coronal diameters of the vertebrae are typical. Flaring and cupping at the costochondral junction of ribs is also characteristic. The metacarpals and phalanges are severely affected.