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Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.

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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"

Sheldon-Hall syndrome can be caused by mutations in the MYH3, TNNI2, TNNT3, or TPM2 gene. These genes provide instructions for making proteins that are involved in muscle tensing (contraction).

Muscle contraction occurs when thick filaments made of proteins called myosins slide past thin filaments made of proteins called actins. The MYH3 gene provides instructions for making a myosin protein that is normally active only before birth and is important for early development of the muscles.

The process of muscle contraction is controlled (regulated) by other proteins called troponins and tropomyosins, which affect the interaction of myosin and actin. Certain troponin proteins are produced from the TNNI2 and TNNT3 genes. The TPM2 gene provides instructions for making a tropomyosin protein.

Mutations in the MYH3, TNNI2, TNNT3, or TPM2 gene likely interfere with normal muscle development or prevent muscle contractions from being properly controlled, resulting in the contractures and other muscle and skeletal abnormalities associated with Sheldon-Hall syndrome. It is unknown why the contractures mainly affect the hands and feet or how these gene mutations are related to other features of this disorder.

MedlinePlus Genetics: Causes

","key":"forms","title":"What causes Sheldon-Hall syndrome?"},{"bodyHtml":"

People with Sheldon-Hall syndrome also usually have distinctive facial features, which include a triangular face; outside corners of the eyes that point downward (down-slanting palpebral fissures); deep folds in the skin between the nose and lips (nasolabial folds); and a small mouth with a high, arched roof of the mouth (palate). Other features that may occur in Sheldon-Hall syndrome include extra folds of skin on the neck (webbed neck) and short stature.

Sheldon-Hall syndrome does not usually affect other parts of the body, and intelligence and life expectancy are normal in this disorder.

Source: MedlinePlus Genetics

","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"sheldon-hall-syndrome","sourceDocuments":[{"name":"Sheldon-Hall syndrome","reviewed":"2015-06","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:56.898315+00:00","label":"Causes","pageSha256":"cfad9d79ca53b0ed9269d11f763f36cdc1be6943ca8b77d3cfcd82ec2c428af1","sourceUrl":"https://medlineplus.gov/genetics/condition/sheldon-hall-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/sheldon-hall-syndrome"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Sheldon-Hall syndrome"},"schemaVersion":1}