Isolated hemihyperplasia

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Isolated hemihyperplasia

ORPHA:2128Morphological anomaly

Also called Hemi 3 syndrome · Hemicorporal hypertrophy · Isolated hemihypertrophy

What it is

Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma and hepoblastoma.

Key facts

Prevalence
1-9 / 100 000
Age of onset
Adolescent, Childhood, Infancy
Inheritance
Autosomal dominant
Classified as
Morphological anomaly

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.

Genes

H19Disease-causing germline mutation(s)
IGF2Disease-causing germline mutation(s)
KCNQ1OT1Disease-causing germline mutation(s)

ICD-10 codes

Q87.3filed under a broader ICD-10 category — shared with 40 other rare diseases

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

GARD 2630MEDDRA 10019463MESH C565524MONDO 0009331OMIM 235000UMLS C1856184

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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