Inherited and Congenital

Principles

The Helical Double Stranded Structure of the Gene
78612pb01.800 78612p.800 cell cytology color ribbon spiral double strand bond chromosomes genes nuclear material nucleus amino acid sequence Davidoff phortography Lucerne Switzerland Davidoff MD

Nervous System

Adrenal and Cerebral Dystrophy – Inherited
31464c04 26 male adrenal brain white matter dx adrenal leukodystrophy inherited Davidoff MD Courtesy Rebecca Schwartz

Endocrine System Cardiovascular System Respiratory System Gastrointestinal System Genitourinary System Musculoskeletal System Reticuloendothelial System

 

Marfan’s Syndrome Sinus of Valsalva Aneurysm
07974c01 heart cardiac right atrium aortic valve aortic sinus fx right atrial filling defect dx sinus of Valsalva aneurysm of the right aortic sinusprolapsing into the right atrium (RA defect) dx Marfan’s Syndrome MRI T1 weighted Davidoff MD 07973.800 07974c01 07974.800

Premature Aging

Hutchinson-Gilford Syndrome or Neonatal Progeria – suffer from premature arthritis and dementia, and often death at a very young age.
Source dailybee.com

 

Poliosis circumscripta
– genetic condition that causes a prominent white streak in the hair
Source dailybee.com
Dermatographia
Sensitivity to scratches can cause raised, red lines that usually last for a about 30minutes
Source dailybee.com
Human chimerism which results in two different skin pigmentations
Source dailybee.com
Hypertrichosis – genetic mutation resulting in hair that grows everywhere
Source dailybee.com
Congenital Melanocytic Nevus – results in patches of brown or black skin on different parts of the body.
Source dailybee.com
Ehlers-Danlos Syndrome
disorder of the connective tissue that inhibits the body’s ability to produce collagen. – wrinkle prematurely and their skin will lose its natural elasticity.
Source dailybee.com
Nails and Hands
Anonychia – No Fingernails
Source dailybee.com
Crab Like Hand
Source dailybee.com
Bifid Thumb
Source dailybee.com
Eyes
Axenfeld-Rieger Syndrome
Congenitally enlarged eyes
Source dailybee.com
Waardenburg Syndrome
Changes in pigmentation of the skin, eyes, and hair,
Source dailybee.com
Waardenburg Syndrome and Wide Set often bright blue Eyes
Source dailybee.com
Pear Shaped Pupil
Source dailybee.com

Face Nose

Bam Syndrome
rare genetic disorder that causes children to be born without a nose or with a small nose. Oftentimes it comes along with poor vision and eye pain
Source dailybee.com