Which physical findings are characteristic of cartilage-hair hypoplasia (CHH)?

Updated: Aug 06, 2019
  • Author: Alan P Knutsen, MD; Chief Editor: Harumi Jyonouchi, MD  more...
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Abnormal physical findings of cartilage hair-hypoplasia are present at birth. [20, 29] Head size is within the normal reference range, hands are short and pudgy, and skin forms redundant folds around the neck and extremities.

Physical findings include the following:

  • Growth - Short-limb dwarfism, average adult height 107–157 cm (40–60 in)

  • Skin - Hypopigmentation

  • Nails - Dysplasia

  • Hair - Fine, sparse, light-colored hair on the scalp, eyebrows, and eyelashes; body hair similarly affected; hair darkens with age. Hair of the scalp, eyebrows, and eyelashes at birth is light in color, fine, and sparse and lacks a central pigmented core.

  • Teeth - Notched incisor, microdontia, doubling of lower premolar lingual cusps

  • Limbs - Short hands, brachydactyly, bowleg

  • Joints - Hypermobility, hyperflexibility, possible limitation of motion affecting elbow extension

  • Spine - Mild platyspondylia, lumbar lordosis

  • Thorax - Flaring of lower rib cage, Harrison grooves

  • GI -Malabsorption, celiac syndrome, Hirschsprung disease, anal stenosis, esophageal atresia

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