Updated: 7/14/2021

Cleidocranial Dysplasia (Dysostosis)

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  • summary
    • Cleidocranial Dysplasia is a rare congenital disorder caused by an autosomal dominant mutation in the RUNX2/CBFA1 gene leading to abnormal intramembranous ossification. Patients present with proportionate dwarfism with the characteristic feature of hypoplastic or absent clavicles.
    • Diagnosis is made based on family history associated with typical radiographic and clinical features. No commercially available diagnostic test exists due to the variety of genetic mutations.
    • Treatment involves a multidisciplinary approach to improve and maintain function with observation of clavicular hypoplasia.
  • Epidemiology
    • Incidence
      • approximately 1 in 1,000,000 affected
  • Etiology
    • Pathophysiology
      • caused by defect in intramembranous ossification
        • leads to failure of formation of midline structures
          • characteristic feature is hypoplastic or absent clavicles
    • Genetics
      • autosomal dominant
      • RUNX2/CBFA1 mutation
        • transcription factor which regulates osteoblastic differentiation
    • Orthopaedic manifestations
      • proportionate dwarfism
      • clavicle dysplasia/aplasia
      • wormian bones
      • frontal bossing
      • delayed fontanelle ossification
        • due to delay in closure of skull sutures
      • coxa vara
      • shortened middle phalanges of 3-5 fingers
      • delayed ossification of pubis
      • dental abnormalities
        • delayed eruption of permanent teeth
  • Presentation
    • Symptoms
      • usually asymptomatic
    • Physical exam
      • hypermobility of the shoulders
      • frontal bossing
      • hand deformities
        • examine middle phalanges for shortening
      • delayed formation of permanent teeth
      • abnormal range of motion at hips
        • if severe coxa vara may be present
  • Imaging
    • Radiographs
      • recommended
        • AP chest
          • to identify clavicular dysmorphism
        • lateral skull
          • look for delayed closure of sutures
        • AP pelvis
          • look for coxa vara
          • look for failure of pubis to ossify
        • AP hands
          • short middle phalanges
  • Treatment
    • Nonoperative
      • observation
        • indications
          • clavicular hypoplasia
        • outcomes
          • most manifestations associated with this disease do not need intervention
    • Operative
      • intertrochanteric osteotomy
        • indications
          • coxa vara with a neck shaft angle of less than 100 degrees

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(OBQ07.241) A heterozygous loss of function mutation in which of the following genes would result in cleidocranial dysplasia?

QID: 902
1

BMP-2

3%

(26/1009)

2

cAMP

5%

(55/1009)

3

c-fos

9%

(87/1009)

4

SOX-9

22%

(226/1009)

5

RUNX2

60%

(606/1009)

L 3 D

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(OBQ05.105) An 8-year-old boy presents with extreme shoulder motion and frontal bossing. A chest radiograph and AP pelvis radiograph are shown. What is the most likely diagnosis?

QID: 991
FIGURES:
1

Cleidocranial dysplasia

92%

(1981/2156)

2

Renal osteodystrophy

2%

(47/2156)

3

Spondyloepiphyseal dysplasia tarda

5%

(102/2156)

4

Hypothyroidism

1%

(11/2156)

5

Bilateral slipped capital femoral epiphyses

0%

(5/2156)

L 1 D

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