Radioulnar synostosis-microcephaly-scoliosis syndrome

What it is

A rare syndrome with synostosis and limb malformations, characterized by radioulnar synostosis, short stature, microcephaly, scoliosis and intellectual disability. Majority of the patients also have clinodactyly (and sometimes brachymesophalangy) of the fifth fingers, syndactyly and brachydactyly of fingers. Joint laxity of the fingers and knees can also be present. Additional clinical features may include global developmental/psychomotor delay (notably speech delay), attention deficit, hyperactivity and variable dysmorphic features (including hypotelorism, prominent eyes and nose and dysmorphic ears).

Key facts

Prevalence

<1 / 1 000 000

Age of onset

Antenatal, Neonatal

Inheritance

Unknown

Classified as

Malformation syndrome

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.

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