Presumably because of the basic defect present in CHST3-related skeletal dysplasia, surgical correction is often only partially successful and most patients have had multiple procedures by adulthood [Unger et al 2010]. [ncbi.nlm.nih.gov]

• Single Transverse Palmar Crease

  Bilateral single transverse palmar creases MedGen UID: 354661 •Concept ID: C1862095 • Finding The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands. [ncbi.nlm.nih.gov]

• Hearing Impairment

  Hearing impairment MedGen UID: 235586 •Concept ID: C1384666 • Disease or Syndrome A general term for the complete or partial loss of the ability to hear from one or both ears. [ncbi.nlm.nih.gov]

• Arthralgia

  Arthralgia MedGen UID: 13917 •Concept ID: C0003862 • Sign or Symptom Joint pain. Clubfoot MedGen UID: 3130 •Concept ID: C0009081 • Congenital Abnormality A deformed foot in which the foot is plantarflexed, inverted, and adducted. [ncbi.nlm.nih.gov]

• Short Neck

  Short femoral neck MedGen UID: 373033 •Concept ID: C1836184 • Finding An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). [ncbi.nlm.nih.gov]

• Delayed Bone Age

  bone age Lacks characteristic CHST3 skeletal dysplasia spine findings 1. [ncbi.nlm.nih.gov]

Treatment of manifestations: Surgical correction of the abnormal joints is the only treatment modality; however, surgical correction is often only partially successful and multiple procedures are needed. Physical therapy has not been effective. [ncbi.nlm.nih.gov]

It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. [ncbi.nlm.nih.gov]