Short stature due to primary acid-labile subunit deficiency

What it is

A rare growth hormone insensitivity syndrome characterized by moderate postnatal growth delay, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), normal response to growth hormone stimulation test, and insulin insensitivity marked by normal glucose levels and hyperinsulinemia. Additional findings may include subnormal IGF-2, IGFBP-1 and IGFBP-2 levels, as well as microcephaly, delayed puberty and bone maturation, and reduced bone mineral density in some cases.

Key facts

Prevalence

<1 / 1 000 000 (Europe)

Age of onset

Infancy, 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