Chromosome 8p disorders are rare genetic conditions with approximately 350 patients around the world and counting. The majority of affected individuals have developmental delays including disordered acquisition of cognitive and social competence and delays in reaching developmental milestones.
Last updated 04/30/2025
Clinical
Disease Class
Cardiac malformations
Developmental anomalies during embryogenesis
Neurological diseases
Body Systems
Cardiovascular / Circulatory
Digestive
Endocrine
Metabolic
Muscular / Skeletal
Nervous / Sensory
Organs
Bones
Brain
Connective tissue / joints
Eyes
Heart
Intestines
Kidneys
Liver
Mouth / teeth
Muscles
Nerves
Pancreas
Skin
Stomach
Known Genetic Link
Yes, one or more genes directly cause the condition