Genetic Disorders: Features, Genes, and Inheritance Patterns

Tay-Sachs Disease

Slowed development, eye abnormalities (cherry-red spot), loss of motor skills, startle reaction, involuntary muscle movement.

Tay-Sachs Disease Genetics

HEXA gene, Chromosome 15

Tay-Sachs Disease Inheritance

Autosomal Recessive

Vascular Ehlers-Danlos Syndrome (vEDS)

Thin skin, prominent veins, risk of arterial aneurysm/rupture.

Vascular Ehlers-Danlos Syndrome Genetics

COL3A1 gene (corrected), Chromosome 2

Vascular Ehlers-Danlos Syndrome Inheritance

Autosomal Dominant

Tuberous Sclerosis

Seizures, LAM (lung disease), kidney tumors, skin findings, behavioral issues.

Tuberous Sclerosis Genetics

TSC1 (Chromosome 9) or TSC2 (Chromosome 16)

Tuberous Sclerosis Inheritance

Autosomal Dominant

Achondroplasia

Short stature, forehead prominence, bowing of legs, lordosis, narrow torso.

Achondroplasia Genetics

FGFR3 gene, Chromosome 4

Achondroplasia Inheritance

Autosomal Dominant

Cherubism

Painless cyst-like facial bone growths, "cherubic" appearance.

Cherubism Genetics

SH3BP2 gene (corrected name)

Cherubism Inheritance

Autosomal Dominant

Cystic Fibrosis

Thick mucus, respiratory issues, digestive problems.

Cystic Fibrosis Genetics

CFTR gene, Chromosome 7

Cystic Fibrosis Inheritance

Autosomal Recessive

Sickle Cell Anemia

Fatigue, yellowing (jaundice), common in African ancestry; red blood cells form sickle/crescent shapes.

Sickle Cell Anemia Genetics

Mutation in HBB gene, Chromosome 11

Sickle Cell Anemia Inheritance

Autosomal Recessive

Werner Syndrome

Premature aging due to shortened chromosome telomeres.

Werner Syndrome Genetics

WRN gene, Chromosome 8

Werner Syndrome Inheritance

Autosomal Recessive

Maple Syrup Urine Disease (MSUD)

Sweet-smelling urine, vomiting, lack of energy, delayed development; especially common in Mennonite population.

Maple Syrup Urine Disease Genetics

BCKDHA, BCKDHB, DBT genes, Chromosome 19

Maple Syrup Urine Disease Inheritance

Autosomal Recessive