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
Spondylolysis
Spondylolisthesis
Degenerative disc disease
Spinal disc herniation
Sciatica
Compartment syndrome
Rhabdomyolysis
Bone disorders
Osteogenesis imperfecta
Craniosynostosis
Pectus excavatum
Arthrogryposis
Genu valgum
Genu varum
Pigeon toe
Flat feet
Club foot
Cleidocranial dysplasia
Achondroplasia
Osteomyelitis
Bone tumors
Osteochondroma
Chondrosarcoma
Osteoporosis
Osteomalacia and rickets
Osteopetrosis
Paget disease of bone
Osteosclerosis
Lordosis, kyphosis, and scoliosis
Joint disorders
Osteoarthritis
Spondylosis
Spinal stenosis
Rheumatoid arthritis
Juvenile idiopathic arthritis
Gout
Calcium pyrophosphate deposition disease (pseudogout)
Psoriatic arthritis
Ankylosing spondylitis
Reactive arthritis
Spondylitis
Septic arthritis
Bursitis
Baker cyst
Muscular disorders
Muscular dystrophy
Polymyositis
Dermatomyositis
Inclusion body myopathy
Polymyalgia rheumatica
Fibromyalgia
Rhabdomyosarcoma
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
Scleroderma
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
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Cleidocranial dysplasia
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Content Reviewers
Rishi Desai, MD, MPHContributors
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.
Sources
- "Robbins Basic Pathology" Elsevier (2017)
- "Harrison's Principles of Internal Medicine, Twentieth Edition (Vol.1 & Vol.2)" McGraw-Hill Education / Medical (2018)
- "Pathophysiology of Disease: An Introduction to Clinical Medicine 8E" McGraw-Hill Education / Medical (2018)
- "CURRENT Medical Diagnosis and Treatment 2020" McGraw-Hill Education / Medical (2019)
- "Runx2 control of organization, assembly and activity of the regulatory machinery for skeletal gene expression" Oncogene (2004)
- "Cleidocranial dysplasia: oral features and genetic analysis of 11 patients" Oral Diseases (2011)
- "Cleidocranial dysplasia: oral features and genetic analysis of 11 patients" Oral Diseases (2011)
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