HomeGeneticsConditionCHST3-related skeletal dysplasia
Back to Condition
CHST3-related skeletal dysplasia
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

CHST3-related skeletal dysplasia

CHST3-related skeletal dysplasia is a genetic condition characterized by progressive bone and joint abnormalities, including short stature and congenital joint dislocations.

Overview

This condition involves bone and joint issues that worsen over time. Affected individuals typically have short stature, with an adult height under four and a half feet. The condition is sometimes referred to by other names, such as autosomal recessive Larsen syndrome or spondyloepiphyseal dysplasia, Omani type.

Symptoms

Key features of the condition include:

  • Joint Dislocations: Present at birth, most commonly affecting the knees, hips, and elbows.
  • Short Stature: Persistent throughout life.
  • Bone and Joint Abnormalities: Inward- and upward-turning foot (clubfoot), limited range of motion in large joints, and spinal abnormalities.
  • Cardiac Involvement: Minor heart defects have been reported in a small number of individuals.

Causes

The condition results from mutations in the CHST3 gene. This gene provides instructions for making the enzyme C6ST-1, which is essential for the normal development of cartilage. Cartilage is a tough, flexible tissue that forms much of the skeleton during early development before being converted to bone. A shortage of the C6ST-1 enzyme disrupts this development, leading to the skeletal and joint abnormalities characteristic of the disorder.

Inheritance

This condition is inherited in an autosomal recessive pattern. Both copies of the gene in each cell must have mutations to cause the disorder. Parents of an affected individual each carry one copy of the mutated gene but typically do not show signs or symptoms of the condition.

Frequently Asked Questions

Diagnosis typically begins with a physical examination revealing short stature and congenital joint dislocations, particularly in the knees, hips, and elbows. Confirmation requires genetic testing to identify mutations in the CHST3 gene. Radiographic imaging is also essential to visualize spinal abnormalities and assess the extent of cartilage and bone development issues.
Over time, the progressive nature of the disorder can lead to severe joint stiffness, limited range of motion, and spinal deformities. Management is primarily orthopedic and may involve physical therapy to maintain mobility, bracing, or surgical interventions to correct dislocations and improve joint alignment. Early and consistent monitoring by a specialist is critical to address complications as they arise.
Yes, parents who are carriers (having one mutated copy of the gene) are typically asymptomatic and healthy. However, if both parents are carriers, there is a 25 percent chance with each pregnancy that the child will inherit two mutated copies and develop the condition. Genetic counseling is recommended for families with a history of the disorder to understand these risks and discuss testing options.
While minor heart defects have been reported in a small number of individuals with CHST3-related skeletal dysplasia, cardiac involvement is not a universal or primary feature of the condition. Routine cardiac screening may be recommended during initial evaluation to rule out any structural anomalies, but ongoing intensive cardiac monitoring is generally not required unless specific defects are identified.
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.

kontakt@hittavard.se

Ⓒ 2024. Alla rättigheter förbehålls av juxt ab

Sök
Om ossVillkor och policyVanliga frågorKontakta oss