Diastrophic dysplasia

What it is

A rare osteochondrodysplasia characterized by shortened limbs, normal sized head, short stature with short extremities (final adult height is 120cm +/- 20cm), spinal deformities and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips). The name indicates the ''twisted'' appearance of the spine and limbs in severe forms that is peculiar of this condition.

Key facts

Prevalence

1-9 / 100 000 (Europe)

Age of onset

Antenatal, Neonatal

Inheritance

Autosomal recessive

Classified as

Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Gene

ICD-10 codes

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references