geneskin

Cartilage-Hair Hypoplasia Syndrome - Key Clinical Features

(1) Skin - hypopigmentation

(2) Limbs - short hands and feet

(3) Hair - fine, sparse hair on scalp, eyelashes and eyebrows

(4) Hypochromic. Joints - hypermobile, Limited elbow extension

(5) Nails - dystrophic

(6) Teeth - hypodontia

(7) Chest - anterolateral chest wall deformity, prominent sternum, Flaring of lower rib cage

(8) Gastrointestinal - Hirschprung's disease (10%) malabsorption (10%)