Cleidocranial dysplasia
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Cleidocranial dysplasia
Pathology
Bone disorders
Osteomyelitis
Bone tumors
Chondrosarcoma
Osteochondroma
Achondroplasia
Arthrogryposis
Cleidocranial dysplasia
Club foot
Craniosynostosis
Flat feet
Genu valgum
Genu varum
Osteogenesis imperfecta
Pectus excavatum
Pigeon toe
Lordosis, kyphosis, and scoliosis
Osteomalacia and rickets
Osteopetrosis
Osteoporosis
Osteosclerosis
Paget disease of bone
Musculoskeletal injuries and trauma
Degenerative disc disease
Sciatica
Spinal disc herniation
Spondylolisthesis
Spondylolysis
Achilles tendon rupture
Anterior cruciate ligament injury
Iliotibial band syndrome
Meniscus tear
Patellar tendon rupture
Patellofemoral pain syndrome
Sprained ankle
Unhappy triad
Compartment syndrome
Rhabdomyolysis
Carpal tunnel syndrome
Erb-Duchenne palsy
Klumpke paralysis
Sciatica
Thoracic outlet syndrome
Ulnar claw
Winged scapula
Carpal tunnel syndrome
Dislocated shoulder
Erb-Duchenne palsy
Klumpke paralysis
Radial head subluxation (Nursemaid elbow)
Rotator cuff tear
Thoracic outlet syndrome
Ulnar claw
Winged scapula
Musculoskeletal system pathology review
Back pain: Pathology review
Bone disorders: Pathology review
Bone tumors: Pathology review
Gout and pseudogout: Pathology review
Muscular dystrophies and mitochondrial myopathies: Pathology review
Myalgias and myositis: Pathology review
Neuromuscular junction disorders: Pathology review
Pediatric musculoskeletal disorders: Pathology review
Rheumatoid arthritis and osteoarthritis: Pathology review
Scleroderma: Pathology review
Seronegative and septic arthritis: Pathology review
Sjogren syndrome: Pathology review
Systemic lupus erythematosus (SLE): Pathology review
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Cleidocranial dysplasia
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Cleidocranial dysplasia
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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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