Table 4.

Treatment of Manifestations in Individuals with Cleidocranial Dysplasia Spectrum Disorder

Manifestation/ConcernTreatmentConsiderations/Other
Craniofacial manifestations
  • If cranial vault defect is significant, protect head from blunt trauma; helmets may be advised for high-risk activities. In these persons, eval by craniofacial surgeon & rehabilitation services are indicated.
  • Affected persons may consider correction of metopic groove for cosmetic reasons. 1
Fontanelles close w/time in majority of persons & cranial remodeling is usually not necessary.
Airway management w/anesthesia
  • Careful planning for anesthetic mgmt
  • ENT consult to assist in securing airway
  • Consider alternative anesthetic approaches, incl neuraxial block, taking into account possible spine abnormalities. 2
Dental & craniofacial abnormalities result in predictably difficult airway mgmt.
Hypoplastic clavicles Affected persons may consider lengthening hypoplastic clavicles for cosmetic reasons. 1
Osteoporosis Calcium & vitamin D supplementation for those w/bone density below normal on DXA scan

Dental manifestations

Early referral to dental clinic familiar w/CCD allows for timely planning of necessary procedures.Generally, an aggressive approach to coordinate multiple oral surgeries for removal of primary dentition & exposure of permanent dentition is recommended; watchful waiting for spontaneous eruption after initial delay is not effective. 3
Dental manifestations that require treatment:
  • Retention of primary dentition
  • Presence of supernumerary teeth
  • Non-eruption of secondary dentition
Goals of treatment:
  • Improve appearance
  • Provide functioning masticatory mechanism
Goals may be achieved w/:
  • Prosthetic replacements, w/ or w/o prior extractions
  • Removal of supernumerary teeth followed by surgical repositioning of secondary teeth
  • Combination of surgical & orthodontic measures for actively erupting teeth & aligning impacted secondary teeth

Speech issues

Speech therapy as needed during periods of dental treatment &/or in those w/speech issues related to hearing impairment.

Sinus & middle ear infections 4

  • Aggressive & timely treatment
  • Tympanostomy tubes should be considered when middle ear infections are recurrent.
  • Regular immunizations incl influenza

Upper airway obstruction

  • Sleep study in those w/manifestations of obstructive sleep apnea
  • Surgical intervention may be required.

Short stature

No treatment recommended
  • Efficacy of GH therapy in CCD has not been proven.
  • Possible adverse effects of GH therapy on primary chondrodysplastic growth plate are theoretically possible, as RUNX2 is directly involved in chondrocyte differentiation & growth plate maintenance. 5

CCD = cleidocranial dysplasia; DXA = dual-energy x-ray absorptiometry; GH = growth hormone

1.

There have been reports of successful surgical interventions for metopic groove & hypoplastic clavicles in a very small number of affected individuals [Kang et al 2009, Sewell et al 2013].

2.
3.
4.
5.

From: Cleidocranial Dysplasia Spectrum Disorder

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