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Biochemistry | Medicine (MD/DO) School Study Aid
Osteogenesis Imperfecta
- Pathophysiology
- Autosomal Dominant
- Decreased Type I Collagen Production
- Symptoms
- Phenotypically Diverse
- Brittle Bone Disease
- Fractures from Minimal Trauma
- Confused with Child Abuse
- Hearing Loss
- Dental Imperfections
- Blue Sclera
1 min
Ehlers-Danlos Syndrome Disease
- Pathophysiology
- Faulty Collagen Synthesis
- Autosomal Dominant or Recessive
- Various Severities
- Signs and Symptoms
- Hypermobile Joints
- Hyperextensible Skin
- Easy Bruising/Bleeding
- Berry (Saccular) Aneurysm
- Considerations
- Brighton Criteria
2 mins
Ehlers-Danlos Syndrome Types
- Types
- Types 1 and 2 - Classical
- Type V Collagen Mutation
- Joints and Skin
- Type 3 - Hypermobility
- Most Common
- Tenascin X Deficiency
- Joint Instability
- Type 4 - Vascular
- Type III Collagen Mutation
- Vascular and Organ Rupture
2 mins
Marfan Syndrome
- Mechanism
- Fibrillin-1 Mutation
- Symptoms
- Autosomal Dominant
- Tall
- Arachnodactyly
- Pectus Excavatum
- Hypermobile Joints
- Aortic Aneurysm And Dissection
- Mitral Valve Prolapse (MVP)
- Subluxation of Lens (Superior)
2 mins
Thymic Aplasia (DiGeorge Syndrome)
- Pathophysiology
- DiGeorge Syndrome
- 22q11 Deletion
- Failure to Develop Third and Fourth Pharyngeal Pouches
- Signs and Symptoms
- Undeveloped Thymus
- T Cell Deficiency
- Recurrent Viral and Fungal Infections
- Undeveloped Parathyroids
- Hypocalcemia
- Tetany
- Aortic Defects
- Congenital Heart Defects
- Diagnosis
- Absent Thymic Shadow on CXR
2 mins
Cri Du Chat
- Pathophysiology
- Congenital Deletion of Short Arm of Chromosome 5p
- Signs and Symptoms
- High Pitched Cry/Mewing
- Microcephaly
- Hypotonia
- Difficulty Sucking and Swallowing
- Epicanthal Folds
- Widely Spaced Eyes
- Wide & Flat Nasal Bridge
- High Arched Palate
- Intellectual Disability
- Cardiac Abnormalities
3 mins
Williams Syndrome
- Pathophysiology
- Microdeletion Of Long Arm Of Chromosome 7
- Elastin Gene
- Signs and Symptoms
- Elfin Facies
- Intellectual Disability
- Extreme Friendliness with Strangers
- Well Developed Verbal Skills
- Cardiovascular Problems
- Hypercalcemia
- Increased Sensitivity To Vitamin D
2 mins
Muscular Dystrophy
- Mechanism
- X-linked Recessive
- Signs and Symptoms
- Muscle Weakness
- Motor Problems
- Gower Sign
- Large Calves
- Waddling Gait
- Loss of Ambulation
- Consideration
- Cardiac and Respiratory Failure
2 mins
Von Hippel-Lindau Disease
- Pathophysiology
- Chromosome 3
- Presentation
- Hemangioblastomas
- Medulla, Retina, Cerebellum
- Cysts
- Kidney, Liver, Pancreas
- Develop Bilateral Renal Carcinomas
- Pheochromocytomas
2 mins
Achondroplasia
- Mechanism
- Autosomal Dominant
- Advanced Paternal Age
- Most Common Cause of Dwarfism
- Mutation of FGFR3 (Fibroblast Growth Factor Receptor 3)
- Defective Endochondral Ossification
- Symptoms
- Delayed Motor Milestones
- Shortened Limbs with Normal Axial Skeleton Size
- May Develop Hydrocephalus
- Symptoms of Spinal Stenosis
- Normal Life Span and Fertility
2 mins
Bruton's Agammaglobulinemia
- Pathophysiology
- X-linked Recessive
- Defective Bruton Tyrosine Kinase
- Blocks B Cell Maturation
- Signs & Symptoms
- Decreased Immunoglobulins of All Classes
- Bacterial Infections After Six Months
- Maternal IgG Protects Before Six Months
2 mins
Klinefelter's Syndrome
- Pathophysiology
- Male (XXY)
- Signs and Symptoms
- Eunuchoid Body Shape
- Gynecomastia and Female Hair Distribution
- Testicular Atrophy
- Dysgenesis of Seminiferous Tubules
- Possible Developmental Delay
- Hypogonadism
- Decreased Inhibin B
- Increased FSH
- Abnormal Leydig Cell Function
- Decreased Testosterone
- Increased LH
- Increased Estrogen
- Barr body (inactivated X chromosome)
6 mins
Neurofibromatosis Type 1
- Pathophysiology
- Autosomal Dominant
- Chromosome 17
- Signs and Symptoms
- Neurofibromas
- Optic Glioma
- Lisch Nodules
- Hamartomas
- Cafe Au Lait Spots
- Scoliosis
- Pheochromocytoma
4 mins
Neurofibromatosis Type 2
- Pathophysiology
- Autosomal-Dominant
- Chromosome 22
- Signs and Symptoms
- Vestibular Schwannoma
- Meningioma
- Ependymoma
- Cafe Au Lait Spots
- Cataracts
2 mins
Kartagener Syndrome (Primary Ciliary Dyskinesia)
- inheritance pattern
- Autosomal Recessive
- pathogenesis
- Immotile Cilia Due to a Dynein Arm Defect
- Symptoms
- Decreased Male and Female Fertility
- Immotile Sperm
- Dysfunctional Fallopian Tube Cilia
- Increased Risk of Ectopic Pregnancy
- Bronchiectasis
- Recurrent Sinusitis
- Chronic Ear Infections
- Conductive Hearing Loss
- Situs Inversus (Dextrocardia on Chest X-Ray)
- SCreening
- Decreased Nasal Nitric Oxide Used as Screening Test
5 mins
Rett Syndrome
- Pathogenesis
- Sporadic Neurological Disorder
- De Novo Mutation of MECP2 on X Chromosome
- RISK FACTORS & SYMPTOMS
- Seen Almost Exclusively In Girls
- Affected Males Die in Utero or Shortly After Birth
- Symptoms Usually Appear Between Ages 1-4
- Developmental Regression
- Motor Impairment
- Intellectual Disability (Mental Retardation)
- Loss of Verbal Abilities
- Seizure
- Stereotyped Hand Wringing
- Decelerated Head Growth (Microcephaly)
- Breathing Problems
- Ataxia
5 mins
Xeroderma Pigmentosum
- Pathophysiology
- Defective Nucleotide Excision Repair
- Pyrimidine Dimer Accumulation
- Autosomal Recessive
- Susceptible to UVA and UVB Rays
- Presentation
- Actinic Keratosis
- Neurodegeneration
- Photosensitivity
- Corneal Ulcers
- Hyperpigmented Lentigines
- Considerations
- Increased Risk of Skin Cancer
3 mins
Adrenoleukodystrophy
- Pathophysiology
- X-linked Recessive
- Peroxisome Dysfunction
- ABCD1 Mutation
- Presentation
- Adrenal Insufficiency
- Leukoencephalopathy
- Testicular Insufficiency
- Diagnosis
- Increased Very Long-chain Fatty Acids (VLCFA)
- Demyelination
- Genetic Testing
- Treatment
- Lorenzo's Oil
- Hematopoietic Stem Cell Transplantation
3 mins
Type I Spinal Muscular Atrophy
- Pathophysiology
- Lower Motor Neuron Disease
- SMN1 Mutation
- Degeneration of Anterior Horn Cells
- Autosomal Recessive
- Clinical Features
- Symmetric Flaccid Paralysis
- Hypotonia
- Bulbar Palsy
- Extraocular Muscle Sparing
- Respiratory Failure
- Diagnosis
- Genetic Testing
- Treatment
- Supportive Therapy
- Nusinersen
3 mins
Refsum Disease
- Pathophysiology
- Autosomal Recessive
- Peroxisome Dysfunction
- Increased Phytanic Acid
- Clinical Features
- Retinitis Pigmentosa
- Hearing Loss
- Polyneuropathy
- Anosmia
- Ataxia
- Diagnosis
- Genetic Testing
- Management
- Dietary Changes
- Plasmapheresis
3 mins
Li-Fraumeni Syndrome
- Pathophysiology
- Autosomal Dominant
- TP53 Mutation
- Loss of Heterozygosity
- Clinical Features
- Osteosarcoma
- Breast Cancer
- Brain Tumors
- Leukemia/Lymphoma
- Adrenocortical Carcinoma
- Management
- Supportive Care
3 mins
Zellweger Syndrome
- Pathophysiology
- Peroxisome Dysfunction
- Autosomal Recessive
- PEX Gene Mutation
- Clinical Features
- Hypotonia
- Seizures
- Hepatomegaly
- Polycystic Kidney Disease
- Diagnosis
- Increased Very Long-chain Fatty Acids (VLCFA)
- Management
- Supportive Care
- Considerations
- Poor Prognosis
3 mins
McCune-Albright Syndrome Characteristics and Presentation
- Characteristics
- Increased Hormone Production
- Sporadic
- Mutation in GNAS Gene
- Mosaicism
- Clinical Features
- Precocious Puberty
- Cushing Syndrome
- Hyperthyroidism
- Cafe Au Lait Spots
- Fibrous Dysplasia
2 mins
Fibrous Dysplasia
- Pathophysiology
- Bone Replaced by Collagen and Fibroblasts
- Location
- Face and Skull
- Ribs
- Long Bones of Arms and Legs
- Sign and Symptom
- Bone Pain
- Diagnosis
- "Ground Glass" Appearance on Imaging
- Complication
- Fracture
- Association
- McCune-Albright Syndrome
- Treatment
- Supportive
2 mins
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