Birth defects

• Birth defects can cause disabilities and even death.
• Alcohol and drug use while pregnant can cause birth defects.
• Ask your provider what you can do to prevent birth defects.

We don’t know the cause of all birth defects. Some may be caused by the genes we inherit from our parents. Others may be caused by environmental factors, like exposure to harmful chemicals. Some may be caused by a combination of genes and environment. In most cases, the causes are unknown.

There are thousands of different birth defects. The most common are heart defects, cleft lip and palate, Down syndrome and spina bifida. Others, such as the ones listed below, are rare and less well known. Use the links to find out more information about these birth defects. Or visit the Office of Rare Disease Research or Genetics Home Reference.

• Albinism, ocular 
• Albinism, oculocutaneous 
• Anencephaly (a neural tube defect) 
• Arnold-Chiari malformation (chiari malformation) 
• CHARGE syndrome 
• Congenital adrenal hyperplasia 
• Congenital diaphragmatic hernia (CDH) 
• Congenital hydrocephalus 
• Craniosynostosis 
• Dandy Walker malformation 
• DiGeorge syndrome 
• Ehlers Danlos syndrome 
• Epidermolysis bullosa 
• Gorham's disease 
• Hashimoto's syndrome (autoimmune thyroiditis) 
• Hydrops fetalis (immune and nonimmune) 
• Hypotonia 
• Klippel-Feil syndrome 
• Muscular dystrophy 
• Osteogenesis imperfecta 
• Progeria 
• Smith Lemli Opitz syndrome 
• Spinal muscular atrophy 
• Tuberous sclerosis 
• Turner syndrome 
• Velocardiofacial syndrome 
• X-linked lymphoproliferative syndrome (Duncan disease)

Last reviewed February 2012