Blepharophimosis with ptosis, syndactyly, and short stature
Other Names for this Disease
- Blepharophimosis - ptosis - esotropia - syndactyly - short stature
- Frydman Cohen Karmon syndrome
These Web pages are updated as the Genetic and Rare Diseases Information Center receives questions and as new information becomes available. If you don’t see many information resources on this page, it may be because the Information Center hasn’t yet received a question about this condition.
Your Questions Answeredby the Genetic and Rare Diseases Information Center
Please contact us with your questions about Blepharophimosis with ptosis, syndactyly, and short stature. We will answer your question and update these pages with new resources and information.
On this page
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Blepharophimosis with ptosis, syndactyly, and short stature. Click on the link to view a sample search on this topic.