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]

• Short Stature

  Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). [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]

• Lordosis

  If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. [ncbi.nlm.nih.gov]

• Short Neck

  Short neck MedGen UID: 99267 •Concept ID: C0521525 • Finding Diminished length of the neck. Delayed skeletal maturation MedGen UID: 108148 •Concept ID: C0541764 • Finding A decreased rate of skeletal maturation. [ncbi.nlm.nih.gov]

• Hypertelorism

  Hypertelorism MedGen UID: 9373 •Concept ID: C0020534 • Finding A condition in which there is an abnormally increased distance between two organs or bodily parts; most often, this term is referring to an increased distance between the orbits (orbital hypertelorism [ncbi.nlm.nih.gov]

• Waddling Gait

  Waddling gait MedGen UID: 66667 •Concept ID: C0231712 • Finding Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. [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]