GTR Home > Conditions/Phenotypes > Cleidocranial dysostosis

Disease characteristics

Excerpted from the GeneReview: Cleidocranial Dysplasia
Cleidocranial dysplasia (referred to as CCD in this review) is a skeletal dysplasia characterized by delayed closure of the cranial sutures, hypoplastic or aplastic clavicles, and multiple dental abnormalities. Manifestations may vary among individuals in the same family. The most prominent clinical findings are abnormally large, wide-open fontanels at birth that may remain open throughout life; mid-face retrusion; abnormal dentition, including delayed eruption of secondary dentition, failure to shed the primary teeth, supernumerary teeth with dental crowding, and malocclusion; clavicular hypoplasia resulting in narrow, sloping shoulders that can be apposed at the midline; and hand abnormalities such as brachydactyly, tapering fingers, and short, broad thumbs. Individuals with CCD are shorter than their unaffected sibs and are more likely to have other skeletal/orthopedic problems such as pes planus, genu valgum, and scoliosis. Other medical problems include recurrent sinus infections and other upper-airway complications, recurrent ear infections, high incidence of cesarean section, and mild degree of motor delay in children under age five years.

Available tests

18 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes and Related conditions for additional relevant tests.

Associated genes

  • Also known as: RP1-166H4.1, AML3, CBF-alpha-1, CBFA1, CCD, CCD1, CLCD, OSF-2, OSF2, PEA2aA, PEBP2aA, RUNX2
    Summary: runt-related transcription factor 2

Clinical features

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  • Coxa vara
  • Short middle phalanx of the 5th finger
  • Kyphosis
  • Persistent open anterior fontanelle
  • Delayed eruption of permanent teeth
  • Absent frontal sinuses
  • Hypoplastic iliac wings
  • Hypoplastic frontal sinuses
  • Midface retrusion
  • Parietal bossing
  • Absent paranasal sinuses
  • Wide pubic symphysis
  • Thickened calvaria
  • Malar flattening
  • Short femoral neck
  • Abnormal facility in opposing the shoulders
  • Aplastic clavicles
  • Moderately short stature
  • Long second metacarpal
  • Micrognathia
  • Delayed pubic bone ossification
  • Delayed eruption of primary teeth
  • Large foramen magnum
  • Cleft palate
  • Increased susceptibility to fractures
  • Narrow palate
  • High palate
  • Hypertelorism
  • Hearing impairment
  • Short ribs
  • Narrow chest
  • Hypoplastic scapulae
  • Cervical ribs
  • Short clavicles
  • Brachydactyly syndrome
  • Frontal bossing
  • Neonatal respiratory distress
  • Wormian bones
  • Scoliosis
  • Spondylolisthesis
  • Spondylolysis
  • Syringomyelia
  • Depressed nasal bridge
  • Hypoplasia of dental enamel
  • Short middle phalanx of the 2nd finger
  • Cone-shaped epiphyses of the phalanges of the hand
  • Increased bone mineral density
  • Increased number of teeth
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