Cleidocranial dysplasia


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Cleidocranial dysplasia

Musculoskeletal system

Pediatric musculoskeletal conditions

Radial head subluxation (Nursemaid elbow)

Developmental dysplasia of the hip

Legg-Calve-Perthes disease

Slipped capital femoral epiphysis

Transient synovitis

Osgood-Schlatter disease (traction apophysitis)

Musculoskeletal injuries and trauma

Rotator cuff tear

Dislocated shoulder

Radial head subluxation (Nursemaid elbow)

Winged scapula

Thoracic outlet syndrome

Carpal tunnel syndrome

Ulnar claw

Erb-Duchenne palsy

Klumpke paralysis

Iliotibial band syndrome

Unhappy triad

Anterior cruciate ligament injury

Patellar tendon rupture

Meniscus tear

Patellofemoral pain syndrome

Sprained ankle

Achilles tendon rupture



Degenerative disc disease

Spinal disc herniation


Compartment syndrome


Bone disorders

Osteogenesis imperfecta


Pectus excavatum


Genu valgum

Genu varum

Pigeon toe

Flat feet

Club foot

Cleidocranial dysplasia



Bone tumors




Osteomalacia and rickets


Paget disease of bone


Lordosis, kyphosis, and scoliosis

Joint disorders



Spinal stenosis

Rheumatoid arthritis

Juvenile idiopathic arthritis


Calcium pyrophosphate deposition disease (pseudogout)

Psoriatic arthritis

Ankylosing spondylitis

Reactive arthritis


Septic arthritis


Baker cyst

Muscular disorders

Muscular dystrophy



Inclusion body myopathy

Polymyalgia rheumatica



Neuromuscular junction disorders

Myasthenia gravis

Lambert-Eaton myasthenic syndrome

Other autoimmune disorders

Sjogren syndrome

Systemic lupus erythematosus

Mixed connective tissue disease

Antiphospholipid syndrome

Raynaud phenomenon


Limited systemic sclerosis (CREST syndrome)

Musculoskeletal system pathology review

Back pain: Pathology review

Rheumatoid arthritis and osteoarthritis: Pathology review

Seronegative and septic arthritis: Pathology review

Gout and pseudogout: Pathology review

Systemic lupus erythematosus (SLE): Pathology review

Scleroderma: Pathology review

Sjogren syndrome: Pathology review

Bone disorders: Pathology review

Bone tumors: Pathology review

Myalgias and myositis: Pathology review

Neuromuscular junction disorders: Pathology review

Muscular dystrophies and mitochondrial myopathies: Pathology review


Cleidocranial dysplasia


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High Yield Notes

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Cleidocranial dysplasia

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External Links


Content Reviewers

Rishi Desai, MD, MPH


Tanner Marshall, MS

In the Netflix series “Stranger Things”, the character Dustin’s missing a few teeth, and he says [“I’ve told you a million times! My teeth are coming in! It’s called cleidocranial dysplasia!”], he’s then asked to [“do the arm thing...CRACK—GROANS”].

Both Dustin and his real-life counterpart—Gaten Matarazzo—have a rare genetic condition—cleidocranial dysplasia or sometimes cleidocranial dysostosis.

“Cleido-” means “clavicle”, which is the collarbone, and “-cranial” refers to the skull, “dys-” means abnormal, and “-plasia” means formation.

So people with cleidocranial dysplasia usually have underdeveloped or missing collarbones, which gives them a wide range of shoulder movement, as well as abnormalities in other bones, especially the skull bones including the jaw, which can result in delayed eruption of the teeth.

Now cleidocranial dysplasia, or CCD, is a rare congenital disorder—meaning present since birth—and it’s caused by a mutation in a gene on chromosome 6, located at 6p21, which means chromosome 6, the short arm, or P, region 2, band 1.

The gene’s called CBFA1 or RUNX2, so let’s just go with RUNX2.

RUNX2 mutations are inherited in an autosomal dominant pattern, meaning if one parent has the disorder and one doesn’t, 50% of their offspring will inherit the disorder and 50% won’t.

Those that inherit the disorder end up with one chromosome that has the mutation and one normal chromosome in every cell, and having just one chromosome with the mutation is enough to cause the disorder.

Sometimes, though, the mutation might be sporadic, meaning it wasn’t inherited from the parents, but it’s a new mutation that just pops up in one of the children.

This RUNX2 gene encodes for a specific RUNX2 protein that acts as a transcription factor.


  1. "Robbins Basic Pathology" Elsevier (2017)
  2. "Harrison's Principles of Internal Medicine, Twentieth Edition (Vol.1 & Vol.2)" McGraw-Hill Education / Medical (2018)
  3. "Pathophysiology of Disease: An Introduction to Clinical Medicine 8E" McGraw-Hill Education / Medical (2018)
  4. "CURRENT Medical Diagnosis and Treatment 2020" McGraw-Hill Education / Medical (2019)
  5. "Runx2 control of organization, assembly and activity of the regulatory machinery for skeletal gene expression" Oncogene (2004)
  6. "Cleidocranial dysplasia: oral features and genetic analysis of 11 patients" Oral Diseases (2011)
  7. "Cleidocranial dysplasia: oral features and genetic analysis of 11 patients" Oral Diseases (2011)

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