Autosomal recessive distal osteolysis syndrome

What it is

A rare primary osteolysis characterized by severe distal osteolysis, mild to moderate intellectual deficiency, short stature, and facial dysmorphism (including maxillary hypoplasia, relative exophthalmos, and broad nasal tip). Patients present with early-onset and rapidly progressive osteolysis, manifests as severe resorption abnormalities in the hands and feet with absence of the distal and middle phalanges. Distal ulnar and radial epiphyses may also be affected. Joint limitation and flexion contractures of the elbows and knees have also been reported. There have been no further descriptions in the literature since 1993.

Key facts

Age of onset

Childhood

Inheritance

Autosomal recessive

Classified as

Malformation syndrome

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.

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