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
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
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
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)
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
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 (Mental Retardation)
- Cardiac Abnormalities
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
Muscular Dystrophy
- X-linked Recessive
- Muscle Weakness
- Motor Problems
- Gower Sign
- Large Calves
- Waddling Gait
- Loss of Ambulation
- Cardiac and Respiratory Failure
Von Hippel-Lindau Disease
- Chromosome 3
- Hemangioblastomas
- Medulla, Retina, Cerebellum
- Cysts
- Kidney, Liver, Pancreas
- Develop Bilateral Renal Carcinomas
- Pheochromocytomas
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
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
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)
Neurofibromatosis Type 1
- Autosomal Dominant
- Chromosome 17
- Neurofibromas
- Optic Glioma
- Lisch Nodules
- Hamartomas
- Cafe Au Lait Spots
- Scoliosis
- Pheochromocytoma
Neurofibromatosis Type 2
- Autosomal-Dominant
- Chromosome 22
- Vestibular Schwannoma
- Meningioma
- Ependymoma
- Cafe Au Lait Spots
- Cataracts
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
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
Kearns-Sayre Syndrome
- Mitochondrial Disease
- Ophthalmoplegia
- Retinitis Pigmentosa
- Heart Block
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
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