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Sheldon-Hall syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Sheldon-Hall syndrome

Sheldon-Hall syndrome is a genetic disorder characterized by joint contractures in the hands and feet, distinctive facial features, and short stature.

Overview

Sheldon-Hall syndrome, also known as distal arthrogryposis type 2B, is a disorder characterized by joint deformities (contractures) that restrict movement in the hands and feet. The term "arthrogryposis" comes from the Greek words for joint (arthro-) and crooked or hooked (gryposis). "Distal" refers to areas of the body away from the center.

Symptoms

The characteristic features of this condition include:

  • Permanently bent fingers and toes.
  • A hand deformity in which all of the fingers are angled outward toward the fifth (pinky) finger.
  • Inward- and upward-turning feet (clubfoot).
  • Distinctive facial features, including a small mouth, outside corners of the eyes that point downward, deep folds in the skin between the nose and lips, and a small chin with a prominent lower lip.
  • Extra folds of skin on the neck and short stature.

The specific hand and foot abnormalities vary among affected individuals; these abnormalities are present at birth and generally do not get worse over time. Sheldon-Hall syndrome does not usually affect other parts of the body, and intelligence and life expectancy are normal.

Causes

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

Associated Genes

  • MYH3
  • TNNI2
  • TNNT3
  • TPM2

Inheritance

This condition is inherited in an autosomal dominant pattern, meaning one copy of the altered gene in each cell is sufficient to cause the disorder. In about 50 percent of cases, an affected person inherits the mutation from an affected parent. Other cases result from new mutations and occur in people with no history of the disorder in their family.

Frequently Asked Questions

Early, intensive physical therapy and the use of splints or braces can improve range of motion and prevent worsening of contractures. In some cases, surgical release of tight tendons or corrective procedures for clubfeet may be necessary; outcomes vary but early intervention generally leads to better functional mobility.
Because the condition is autosomal dominant, each child of an affected parent has a 50 % chance of inheriting the mutation. Genetic counseling and testing for at-risk family members are recommended to inform reproductive decisions and early management.
diagnosis can often be made at birth or in the first few months by a thorough physical exam that looks for the characteristic hand and foot contractures and facial features. Confirmation is obtained with targeted genetic testing for mutations in MYH3, TNNI2, TNNT3, or TPM2, which can be done on a blood sample or a buccal swab.
Most individuals with Sheldon‑Hall syndrome have normal intelligence and a normal life expectancy. The main concerns are related to mobility, hand function, and, occasionally, respiratory issues if the contractures involve the chest wall.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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