Growth and development

2

Disproportionate short-limb short stature, Neonatal short-limb short stature

Heart and blood vessels

1

Hypertrophic auricular cartilage

Ears

1

Hearing loss (hearing impairment)

Muscles

1

Hip contracture

Brain and nerves

1

Intellectual disability

Head and neck

1

Cleft palate

Pregnancy and birth

1

Neonatal short-limb short stature

Respiratory

Check respiratory rate for signs of indrawing.

Refer to pediatric pulmonologist if any concerns.

Musculoskeletal

Cervical films (antero-posterior, lateral, in flexion-extension)

Complete skeletal survey

counseling

By genetics professionals1

To inform affected persons families re nature, MOI, implications of DTD to facilitate medical personal decision making DTD = diastrophic dysplasia; MOI = mode of inheritance; PT = physical therapy 1.

Treatment of Manifestations in Individuals with Diastrophic Dysplasia Manifestation/Concern

Treatment

Considerations/Other Cervical

kyphosis

Cervical spine surgery in infancy may be limited to those w/clinical or neurophysiologic evidence of spinal cord impingement.

The rate of spontaneous correction is rather high. Contractures; In children, maintain joint positioning/ mobility as much as possible by physical means (PT casting, e.g., for clubfeet)

Clubfoot

Surgical correction is indicated when foot deformity makes ambulation impossible.

Undertake surgery w/caution, as deformities tend to recur.; Simple tenotomy does not suffice, more extensive plasty of tarsal bones may be needed .

Scoliosis

Treatment per orthopedic specialist1

Postpubertal surgical correction is best in most cases .; Surgery before puberty may be helpful for those w/severe spinal deformity respiratory compromise or neurologic signs. Premature degenerative

arthrosis

Arthroplasty

Total arthroplasty of hips knees pain mobility in a group of adult Finnish persons . The authors concluded that arthroplasty is indicated in "relatively young adults" w/DTD. Cystic ear

swelling

Conservative approach

DTD = diastrophic dysplasia; PT = physical therapy Indications for surgical correction of have not been established, nor have criteria to define a successful surgical outcome . It should be noted that surgical series are inevitably biased toward more severely affected individuals.

Recommended Surveillance for Individuals with Diastrophic Dysplasia System/Concern

Evaluation

Frequency Musculoskeletal