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
Alport Syndrome
- Nephritic
- X-linked
- Mutation in Type IV Collagen
- Split Basement Membrane
- Basket Weave Appearance
- Ocular Disorders
- Deafness
Anti-glomerular Basement Membrane Antibodies
- Glomerulonephritis
- Goodpasture's Disease
- Linear immunofluorescence
- Hemoptysis
- Hematuria
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