Other Names for this Disease
- Arthrogryposis multiplex congenita distal type 2B
- Freeman Sheldon syndrome, variant
- Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities
- Distal arthrogryposis type IIB
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contractures) that restrict movement in the hands and feet. People with this condition may also have distinctive facial features, extra folds of skin on the neck, and short stature. Intelligence and life expectancy are not usually affected. Sheldon-Hall syndrome can be caused by mutations in the MYH3, TNNI2, TNNT3, or TPM2 gene. It is inherited in an autosomal dominant pattern. In about 50% of cases, an affected person inherits the mutation from an affected parent. Other cases result from a new mutation in the gene and occur in people with no family history of the disorder. While there is no specific treatment for this condition, occupational and physical therapy, serial casting, and/or surgery may benefit those who are affected.Sheldon-Hall syndrome, also known as distal arthrogryposis type 2B, is characterized by joint deformities (
Last updated: 1/20/2016
- Sheldon-Hall syndrome. Genetics Home Reference (GHR). June 2015; http://ghr.nlm.nih.gov/condition/sheldon-hall-syndrome.
- Bamshad M, Toydemir R. Sheldon-Hall syndrome. Orphanet. March 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1147.
- Genetics Home Reference (GHR) contains information on Sheldon-Hall syndrome. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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 Sheldon-Hall syndrome. Click on the link to view a sample search on this topic.