MSK TABLE SUMMARY

Achondroplasia FGFR3 gain-of-function mutation

What is the genetic etiology of Achondroplasia?

Paternal origin

What is the typical parental origin for the FGFR3 mutation in Achondroplasia?

Delayed cartilage growth at the epiphyseal plate

What is the pathophysiology of Achondroplasia?

Long bones

Which bones are primarily affected in Achondroplasia?

Rhizomelia

What is the term for shortened proximal limbs seen in Achondroplasia?

Disproportionate short stature

What is the primary clinical presentation of Achondroplasia?

Frontal bossing and depressed nasal bridge

What are the distinguishing facial features of Achondroplasia?

No effect

How does Achondroplasia typically affect intelligence and fertility?

Clinical and radiographic

What is the primary diagnostic approach for Achondroplasia?

Supportive

What is the treatment for Achondroplasia?

Rhizomelia

What is the buzzword for Achondroplasia?

Strong FGFR3 signaling mutation

What is the etiology of Thanatophoric Dysplasia?

Disorganized proliferative zone

What is the pathophysiology of Thanatophoric Dysplasia?

Lethal dwarfism

What type of dwarfism is Thanatophoric Dysplasia categorized as?

Small thoracic cavity

What structure is primarily affected in Thanatophoric Dysplasia?

Micromelia

What is the term for extremely short limbs in Thanatophoric Dysplasia?

Bell-shaped abdomen

What is the pathognomonic physical sign of Thanatophoric Dysplasia?

Respiratory insufficiency and death

What are the common complications of Thanatophoric Dysplasia?

Prenatal ultrasound or radiograph

What are the diagnostics for Thanatophoric Dysplasia?

Fatal

What is the prognosis for Thanatophoric Dysplasia?

Thanos

What is the death-related buzzword for Thanatophoric Dysplasia?

COL1A1 or COL1A2

What gene mutations cause Osteogenesis Imperfecta?

Type I Collagen

What protein is defective in Osteogenesis Imperfecta?

Impaired collagen triple-helix assembly

What is the pathophysiology of Osteogenesis Imperfecta?

Glycine substitution

What specific amino acid substitution occurs in Osteogenesis Imperfecta?

Bones, eyes, ears, and teeth

Which structures are affected by Osteogenesis Imperfecta?

Extreme skeletal fragility

What is the clinical presentation of Osteogenesis Imperfecta?

Blue sclera

What is the pathognomonic eye finding in Osteogenesis Imperfecta?

Hearing loss and Dentinogenesis imperfecta

What are two distinguishing features of Osteogenesis Imperfecta besides bone fragility?

Fatal in utero

What is the prognosis for Type II Osteogenesis Imperfecta?

Radiograph

What is used to diagnose fractures in Osteogenesis Imperfecta?

Bisphosphonates

What is the medical treatment for Osteogenesis Imperfecta?

Brittle Bone Disease or Accordion limbs

What are the buzzwords for Osteogenesis Imperfecta?

CLCN7, TCIRG1, or CA II

What are three potential gene mutations in Osteopetrosis?

Chloride channel

What type of channel does CLCN7 encode in Osteopetrosis?

H+ ATPase

What does TCIRG1 encode in the context of Osteopetrosis?

Reduced bone resorption

What is the pathophysiology of Osteopetrosis?

Failure to acidify the resorption pit

What specific functional failure occurs in Osteopetrosis?

Entire skeleton

What is the affected structure in Osteopetrosis?

Dense but brittle bones and anemia

What is the clinical presentation of Osteopetrosis?

Erlenmeyer Flask deformity

What is the distinguishing radiographic feature of Osteopetrosis?

Renal tubular acidosis

What complication occurs if CA II is defective in Osteopetrosis?

Diffuse sclerosis

What is seen on a radiograph of a patient with Osteopetrosis?

Hematopoietic stem cell transplant

What is a definitive treatment for Osteopetrosis?

Marble Bone or Stone-like

What are the buzzwords for Osteopetrosis?

RUNX2 Loss-of-function

What is the etiology of Cleidocranial Dysplasia?

Disorganized osteoblast differentiation

What is the pathophysiology of Cleidocranial Dysplasia?

Cranium and clavicles

What are the primary affected structures in Cleidocranial Dysplasia?

Short stature and supernumerary teeth

What is the clinical presentation of Cleidocranial Dysplasia?

Wormian bones, patent fontanelles, and hypoplastic clavicles

What are three distinguishing features of Cleidocranial Dysplasia?

Dental crowding

What is a common complication of Cleidocranial Dysplasia?

Gaten Matarazzo

What is the cultural buzzword for Cleidocranial Dysplasia?

Aging or Estrogen deficiency

What are the two primary etiologies of Osteoporosis?

Senile

What is the term for osteoporosis caused by aging?

Postmenopausal

What is the term for osteoporosis caused by estrogen deficiency?

Resorption is greater than formation

What is the pathophysiology of Osteoporosis?

Vertebrae, femoral neck, and wrist

What are the three most common structures affected by Osteoporosis?

Silent disease

How is Osteoporosis often described clinically?

Sudden pain after a fall

When does pain typically present in Osteoporosis?

Loss of height and kyphoscoliosis

What are two distinguishing features of Osteoporosis?

Fragility fractures, pneumonia, and DVT

What are three major complications of Osteoporosis?

DEXA scan

What is the diagnostic tool for Osteoporosis?

T-score less than -2.5

What DEXA score indicates Osteoporosis?

Denosumab, Exercise, Calcium, and Vitamin D3

What are four treatments for Osteoporosis besides bisphosphonates?

Silent Disease

What is the buzzword for Osteoporosis?

Vitamin D deficiency or abnormal metabolism

What is the etiology of Osteomalacia and Rickets?

Remodeled bone remains unmineralized and soft

What is the pathophysiology of Osteomalacia?

Growth plates

Where is the primary site affected in Rickets?

Bowed extremities

What is the clinical presentation of Rickets in children?

Looser fractures and Protrusio acetabuli

What are two distinguishing features of Osteomalacia?

Pathologic fractures

What is a common complication of Osteomalacia?

25(OH)D assay

What is the biochemical diagnostic for Vitamin D deficiency?

Bendy bones

What is the buzzword for Osteomalacia?

SQSTM1 mutation

What is the genetic etiology of Paget Disease?

Osteitis Deformans

What is the synonym for Paget Disease?

Lytic to Mixed to Sclerotic

What is the sequence of phases in Paget Disease?

Disordered bone formation

What is the general pathophysiology of Paget Disease?

Axial skeleton and proximal femur

What are the affected structures in Paget Disease?

Bone pain and enlarged head

What is the clinical presentation of Paget Disease?

Mosaic pattern of lamellar bone

What is the distinguishing histological feature of Paget Disease?

Secondary Osteosarcoma and Platybasia

What are two complications of Paget Disease?

Elevated Alkaline Phosphatase

What lab finding is characteristic of Paget Disease?

Normal

What are the typical levels of Calcium and Phosphate in Paget Disease?

Calcitonin

What is a treatment for Paget Disease besides bisphosphonates?

Leontiasis ossea

What is the lion face buzzword for Paget Disease?

Aging and biomechanical stress

What are the two etiologies of Osteoarthritis?

Chondrocyte injury and matrix breakdown

What is the pathophysiology of Osteoarthritis?

Hips, knees, DIP, and PIP joints

What are the primary structures affected by Osteoarthritis?

Deep joint pain

What type of pain is seen in Osteoarthritis?

Less than 30 minutes

What is the duration of morning stiffness in Osteoarthritis?

Heberden nodes and bone eburnation

What are two pathognomonic signs of Osteoarthritis?

Joint deformity and limited ROM

What are the complications of Osteoarthritis?

Osteophytes, sclerosis, and narrow joint space

What are three radiographic findings in Osteoarthritis?

Arthroplasty

What is a surgical treatment for Osteoarthritis?

Joint mice

What is the buzzword for loose bodies in Osteoarthritis?

Autoimmunity (Anti-CCP or RF)

What is the etiology of Rheumatoid Arthritis?

HLA-DR4

Which genetic allele is associated with Rheumatoid Arthritis?

Proliferative synovitis

What is the pathophysiology of Rheumatoid Arthritis?

CD4+ T-cell mediated destruction

Which immune cells mediate joint destruction in Rheumatoid Arthritis?

Small joints of hands and toes

Where does Rheumatoid Arthritis typically start?