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]

• Widely Spaced Teeth

  Widely spaced teeth MedGen UID: 337093 •Concept ID: C1844813 • Finding Increased spaces (diastemata) between most of the teeth in the same dental arch. [ncbi.nlm.nih.gov]

• Eruptions

  Delayed eruption of teeth MedGen UID: 68678 •Concept ID: C0239174 • Finding Microdontia MedGen UID: 66008 •Concept ID: C0240340 • Congenital Abnormality Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than [ncbi.nlm.nih.gov]

• Sparse to No Eyebrows

  Fixed elbow flexion MedGen UID: 870595 •Concept ID: C4025044 • Finding Sparse and thin eyebrow MedGen UID: 924309 •Concept ID: C4282407 • Finding Decreased density/number and/or decreased diameter of eyebrow hairs. [ncbi.nlm.nih.gov]

• Thin Eyebrows

  Fixed elbow flexion MedGen UID: 870595 •Concept ID: C4025044 • Finding Sparse and thin eyebrow MedGen UID: 924309 •Concept ID: C4282407 • Finding Decreased density/number and/or decreased diameter of eyebrow hairs. [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]

• Flexion Contracture

  Flexion contracture MedGen UID: 83069 •Concept ID: C0333068 • Anatomical Abnormality A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. [ncbi.nlm.nih.gov]

• Genu Valgum

  Genu valgum can develop due to skeletal and joint dysplasias (e.g., OSTEOARTHRITIS; HURLER SYNDROME); and malnutrition (e.g., RICKETS; FLUORIDE POISONING). [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]

• Ventricular Hypertrophy

  Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy. Short stature MedGen UID: 87607 •Concept ID: C0349588 • Finding A height below that which is expected according to age and gender norms. [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]