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Published on: March 23, 2022

Sheldon-Hall syndrome.

Reha M Toydemir1, Michael J Bamshad

  • 1Department of Human Genetics, Howard Hughes Medical Institute, University of Utah, Salt Lake City, UT, USA. rtoydemi@genetics.utah.edu

Orphanet Journal of Rare Diseases
|March 25, 2009
PubMed
Summary
This summary is machine-generated.

Sheldon-Hall syndrome (SHS) is a rare genetic disorder affecting limb contractures and facial features. Early intervention with therapies and possible surgery can improve patient outcomes.

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Area of Science:

  • Genetics
  • Pediatrics
  • Medical Genetics

Background:

  • Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture disorder.
  • Characterized by distal limb contractures, facial anomalies, and high arched palate.
  • Fewer than 100 cases reported, with unknown prevalence.

Purpose of the Study:

  • To provide a comprehensive overview of Sheldon-Hall syndrome.
  • To detail clinical manifestations, inheritance patterns, and genetic underpinnings.
  • To discuss diagnostic criteria, genetic testing, and management strategies.

Main Methods:

  • Clinical diagnosis based on characteristic features.
  • Genetic analysis of MYH3, TNNI2, and TNNT3 genes in affected individuals.
  • Review of existing literature on SHS cases and management.

Main Results:

  • SHS presents with contractures, triangular face, downslanting palpebral fissures, and small mouth.
  • Autosomal dominant inheritance observed, with approximately 50% sporadic cases.
  • Mutations in MYH3, TNNI2, or TNNT3 identified in about 50% of cases.

Conclusions:

  • SHS diagnosis relies on clinical criteria, with genetic testing aiding differentiation from similar syndromes.
  • Prenatal diagnosis is feasible via ultrasonography and molecular genetic testing.
  • No specific cure exists, but early intervention with physical/occupational therapy, casting, and surgery improves function. Normal life expectancy and cognition are expected.