Genetic Disorders
What are genetic disorders?
Genetic disorders is a category of diseases that includes certain types of birth defects, chronic diseases, developmental problems and sensory deficits that are inherited from one or both parents.
Birth defects
- Cataracts
- Cleft lip or palate
- Congenital heart disease
- Contractures
- Diaphragmatic hernia
- Genital malformations
- Glaucoma
- Misshapen skull
- Missing fingers or toes
- Missing or incomplete arms or legs
- Spina bifida or open spine defects
Chronic diseases
- Bleeding disorders
- Childhood cancers
- Kidney or urinary tract disease
- Slow growth or short stature
- Cystic fibrosis
- Sickle cell disease
- Thalassemia
Developmental problems
- Autism
- Attention deficit/hyperactivity
- Developmental delay
- Failure to thrive
- Learning disability
- Loss of developmental skills
- Low muscle tone
- Mental illness
- Mental retardation
- Speech problems
- Seizures
Sensory Deficits
- Extreme farsightedness
- Extreme nearsightedness
- Hearing loss
- Retinal or other visual problems
Some of the symptoms can be the same as those for conditions that are not inherited, Features can appear at birth (congenital heart disease or cleft lip or palate) or during the course of childhood (developmental delays or learning problems). Diagnosis may involve a physical exam or targeted genetic testing
How we care for genetic disorders
The Division of Genetics and Genomics works closely with the Genetics Division's research laboratories to develop scientific findings into new treatments and cures for your child. Home to world's only center studying rare "orphan" diseases that affect fewer than 200,000 people in the country, we are poised to become the richest database of genetic and clinical pediatric data in the world.
