Table 2.

Clinical Scoring System

Clinical FeaturePointsComments
Crumpled ears3
  • In neonates: a "crumpled ear" often shows underdevelopment & folding of the upper part of the helix w/a prominent helical crus & inferior crus of the antihelix.
  • In older children / adults: ear may "unfold" but the prominence of the crura remains, giving a "tram track" appearance to the ear (see Figure 1).
Arachnodactyly3
  • Assessed by evaluating the wrist sign 1 and the thumb sign 2
  • Both signs should be present before arachnodactyly is confirmed.
Camptodactyly3
Large-joint
contractures		3
Pectus deformity2
Dolichostenomelia2Defined as presence of:
  • ↓ US/LS ratio (for white adults <0.85; <0.78 in black adults; no data assessed in Asians); AND
  • ↑ arm-span-to-height ratio (for adults >1.05) w/no significant scoliosis [Loeys et al 2010]
Kyphoscoliosis1
  • Scoliosis can be diagnosed clinically 3 or by radiograph. 4
  • Kyphosis = exaggerated thoracolumbar kyphosis [Loeys et al 2010]
Muscle hypoplasia1
Highly arched palate1
Micrognathia1

US/LS = upper segment to lower segment

1.

Positive wrist sign: the tip of the thumb covers the entire fingernail of the fifth finger when wrapped around the contralateral wrist [Loeys et al 2010].

2.

Positive thumb sign: the entire distal phalanx of the adducted thumb extends beyond the ulnar border of the palm with or without the assistance of the patient or examiner to achieve maximal adduction [Loeys et al 2010].

3.

Clinical diagnosis: on bending forward, a vertical difference of ≥1.5 cm between the ribs of the left and right hemithorax is observed [Loeys et al 2010].

4.

Radiographic: a Cobb's angle (angle between a line drawn along the superior-end plate of the superior-end vertebra and a second line drawn along the inferior-end plate of the inferior-end vertebra of the scoliosis measured on anterior-posterior view of the spine) of ≥20° is seen [Loeys et al 2010].

From: Congenital Contractural Arachnodactyly

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