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Sheldon-Hall syndrome.
Orphanet J Rare Dis. 2009 Mar 23; 4:11.OJ

Abstract

Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. Epidemiological data for the prevalence of SHS are not available, but less than 100 cases have been reported in the literature. Other common clinical features of SHS include prominent nasolabial folds, high arched palate, attached earlobes, mild cervical webbing, short stature, severe camptodactyly, ulnar deviation, and vertical talus and/or talipes equinovarus. Typically, the contractures are most severe at birth and non-progressive. SHS is inherited in an autosomal dominant pattern but about half the cases are sporadic. Mutations in either MYH3, TNNI2, or TNNT3 have been found in about 50% of cases. These genes encode proteins of the contractile apparatus of fast twitch skeletal muscle fibers. The diagnosis of SHS is based on clinical criteria. Mutation analysis is useful to distinguish SHS from arthrogryposis syndromes with similar features (e.g. distal arthrogryposis 1 and Freeman-Sheldon syndrome). Prenatal diagnosis by ultrasonography is feasible at 18-24 weeks of gestation. If the family history is positive and the mutation is known in the family, prenatal molecular genetic diagnosis is possible. There is no specific therapy for SHS. However, patients benefit from early intervention with occupational and physical therapy, serial casting, and/or surgery. Life expectancy and cognitive abilities are normal.

Authors+Show Affiliations

Department of Human Genetics, Howard Hughes Medical Institute, University of Utah, Salt Lake City, UT, USA. rtoydemi@genetics.utah.eduNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

19309503

Citation

Toydemir, Reha M., and Michael J. Bamshad. "Sheldon-Hall Syndrome." Orphanet Journal of Rare Diseases, vol. 4, 2009, p. 11.
Toydemir RM, Bamshad MJ. Sheldon-Hall syndrome. Orphanet J Rare Dis. 2009;4:11.
Toydemir, R. M., & Bamshad, M. J. (2009). Sheldon-Hall syndrome. Orphanet Journal of Rare Diseases, 4, 11. https://doi.org/10.1186/1750-1172-4-11
Toydemir RM, Bamshad MJ. Sheldon-Hall Syndrome. Orphanet J Rare Dis. 2009 Mar 23;4:11. PubMed PMID: 19309503.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Sheldon-Hall syndrome. AU - Toydemir,Reha M, AU - Bamshad,Michael J, Y1 - 2009/03/23/ PY - 2008/11/10/received PY - 2009/03/23/accepted PY - 2009/3/25/entrez PY - 2009/3/25/pubmed PY - 2009/5/6/medline SP - 11 EP - 11 JF - Orphanet journal of rare diseases JO - Orphanet J Rare Dis VL - 4 N2 - Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. Epidemiological data for the prevalence of SHS are not available, but less than 100 cases have been reported in the literature. Other common clinical features of SHS include prominent nasolabial folds, high arched palate, attached earlobes, mild cervical webbing, short stature, severe camptodactyly, ulnar deviation, and vertical talus and/or talipes equinovarus. Typically, the contractures are most severe at birth and non-progressive. SHS is inherited in an autosomal dominant pattern but about half the cases are sporadic. Mutations in either MYH3, TNNI2, or TNNT3 have been found in about 50% of cases. These genes encode proteins of the contractile apparatus of fast twitch skeletal muscle fibers. The diagnosis of SHS is based on clinical criteria. Mutation analysis is useful to distinguish SHS from arthrogryposis syndromes with similar features (e.g. distal arthrogryposis 1 and Freeman-Sheldon syndrome). Prenatal diagnosis by ultrasonography is feasible at 18-24 weeks of gestation. If the family history is positive and the mutation is known in the family, prenatal molecular genetic diagnosis is possible. There is no specific therapy for SHS. However, patients benefit from early intervention with occupational and physical therapy, serial casting, and/or surgery. Life expectancy and cognitive abilities are normal. SN - 1750-1172 UR - https://www.unboundmedicine.com/medline/citation/19309503/Sheldon_Hall_syndrome_ L2 - https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-4-11 DB - PRIME DP - Unbound Medicine ER -