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Biochemistry | Medicine (MD/DO) School Study Aid

Osteogenesis Imperfecta

Autosomal Dominant

Decreased Type I Collagen Production

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

Faulty Collagen Synthesis

Autosomal Dominant or Recessive

Various Severities

Hypermobile Joints

Hyperextensible Skin

Easy Bruising/Bleeding

Berry (Saccular) Aneurysm

Brighton Criteria

2 mins

Ehlers-Danlos Syndrome 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

Fibrillin-1 Mutation

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)

DiGeorge Syndrome

22q11 Deletion

Failure to Develop Third and Fourth Pharyngeal Pouches

Undeveloped Thymus

T Cell Deficiency

Recurrent Viral and Fungal Infections

Undeveloped Parathyroids

Hypocalcemia

Tetany

Aortic Defects

Congenital Heart Defects

Absent Thymic Shadow on CXR

2 mins

Cri Du Chat

Congenital Deletion of Short Arm of Chromosome 5p

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

Microdeletion Of Long Arm Of Chromosome 7

Elastin Gene

Elfin Facies

Intellectual Disability

Extreme Friendliness with Strangers

Well Developed Verbal Skills

Cardiovascular Problems

Hypercalcemia

Increased Sensitivity To Vitamin D

2 mins

Muscular Dystrophy

X-linked Recessive

Muscle Weakness

Motor Problems

Gower Sign

Large Calves

Waddling Gait

Loss of Ambulation

Cardiac and Respiratory Failure

2 mins

Von Hippel-Lindau Disease

Chromosome 3

Hemangioblastomas

Medulla, Retina, Cerebellum

Cysts

Kidney, Liver, Pancreas

Develop Bilateral Renal Carcinomas

Pheochromocytomas

2 mins

Achondroplasia

Autosomal Dominant

Advanced Paternal Age

Most Common Cause of Dwarfism

Mutation of FGFR3 (Fibroblast Growth Factor Receptor 3)

Defective Endochondral Ossification

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

X-linked Recessive

Defective Bruton Tyrosine Kinase

Blocks B Cell Maturation

Decreased Immunoglobulins of All Classes

Bacterial Infections After Six Months

Maternal IgG Protects Before Six Months

2 mins

Klinefelter's Syndrome

Male (XXY)

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

Autosomal Dominant

Chromosome 17

Neurofibromas

Optic Glioma

Lisch Nodules

Hamartomas

Cafe Au Lait Spots

Scoliosis

Pheochromocytoma

4 mins

Neurofibromatosis Type 2

Autosomal-Dominant

Chromosome 22

Vestibular Schwannoma

Meningioma

Ependymoma

Cafe Au Lait Spots

Cataracts

2 mins

Kartagener Syndrome (Primary Ciliary Dyskinesia)

Autosomal Recessive

Immotile Cilia Due to a Dynein Arm Defect

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)

Decreased Nasal Nitric Oxide Used as Screening Test

5 mins

Rett Syndrome

Sporadic Neurological Disorder

De Novo Mutation of MECP2 on X Chromosome

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

Defective Nucleotide Excision Repair

Pyrimidine Dimer Accumulation

Autosomal Recessive

Susceptible to UVA and UVB Rays

Actinic Keratosis

Neurodegeneration

Photosensitivity

Corneal Ulcers

Hyperpigmented Lentigines

Increased Risk of Skin Cancer

3 mins

Adrenoleukodystrophy

X-linked Recessive

Peroxisome Dysfunction

ABCD1 Mutation

Adrenal Insufficiency

Leukoencephalopathy

Testicular Insufficiency

Increased Very Long-chain Fatty Acids (VLCFA)

Demyelination

Genetic Testing

Lorenzo's Oil

Hematopoietic Stem Cell Transplantation

3 mins

Type I Spinal Muscular Atrophy

Lower Motor Neuron Disease

SMN1 Mutation

Degeneration of Anterior Horn Cells

Autosomal Recessive

Symmetric Flaccid Paralysis

Hypotonia

Bulbar Palsy

Extraocular Muscle Sparing

Respiratory Failure

Genetic Testing

Supportive Therapy

Nusinersen

3 mins

Refsum Disease

Autosomal Recessive

Peroxisome Dysfunction

Increased Phytanic Acid

Retinitis Pigmentosa

Hearing Loss

Polyneuropathy

Anosmia

Ataxia

Genetic Testing

Dietary Changes

Plasmapheresis

3 mins

Li-Fraumeni Syndrome

Autosomal Dominant

TP53 Mutation

Loss of Heterozygosity

Osteosarcoma

Breast Cancer

Brain Tumors

Leukemia/Lymphoma

Adrenocortical Carcinoma

Supportive Care

3 mins

Zellweger Syndrome

Peroxisome Dysfunction

Autosomal Recessive

PEX Gene Mutation

Hypotonia

Seizures

Hepatomegaly

Polycystic Kidney Disease

Increased Very Long-chain Fatty Acids (VLCFA)

Supportive Care

Poor Prognosis

3 mins

McCune-Albright Syndrome Characteristics and Presentation

Increased Hormone Production

Sporadic

Mutation in GNAS Gene

Mosaicism

Precocious Puberty

Cushing Syndrome

Hyperthyroidism

Cafe Au Lait Spots

Fibrous Dysplasia

2 mins

Menkes Disease

X-linked Recessive

Defect in ATP7A

Defective Copper Transporting ATPase 1

Defective Collagen

Brittle, Kinky Hair

Hypopigmentation

Hypotonia

Developmental Delay

Cerebral Aneurysm

Genetic Testing

Blood Test

2 mins

Fibrous Dysplasia

Bone Replaced by Collagen and Fibroblasts

Face and Skull

Ribs

Long Bones of Arms and Legs

Bone Pain

"Ground Glass" Appearance on Imaging

Fracture

McCune-Albright Syndrome

Supportive

2 mins

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