Pediatric Genetic Disorders & Rare Diseases

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

  • Danon disease
  • Turner syndrome
  • Skeletal dysplasia
  • Down syndrome
  • Genetics of Ehlers-Danlos syndrome
  • Klinefelter syndrome
  • Trisomy 18
  • Sitosterolemia (Phytosterolemia)

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Pediatric Genetic Disorders & Rare Diseases Conference Speakers

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