Joint dislocations, most often affecting the knees, hips, and elbows, are present at birth (congenital). [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]

• 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]

• 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]

• 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]

During childhood, the dislocations improve, both spontaneously and with surgical treatment, and features of spondyloepiphyseal dysplasia become apparent, leading to arthritis of the hips and spine with intervertebral disc degeneration, rigid kyphoscoliosis [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]