- Albinism
- Anencephaly
- Arnold-Chiari malformation
- CHARGE syndrome
- Congenital adrenal hyperplasia
- Craniosynostosis
- Dandy Walker malformation
- Diaphragmatic hernia
- DiGeorge syndrome
- Gorham's disease
- Hashimoto's syndrome (autoimmune thyroiditis)
- 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)
For other conditions: The National Organization for Rare Disorders provides an alphabetical index about many birth defects and other medical conditions. The index includes links to related organizations.
The Organization of Teratology Information Services (OTIS) provides fact sheets for the public that describe substances and conditions associated with birth defects.






