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hemihyperplasia-multiple lipomatosis syndrome (HHML) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hemihyperplasia-multiple lipomatosis syndrome

MONDO:0017177

Also known as:HHML

Overview

A rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Overgrowth; and common findings: Macrodactyly and Abnormal cerebral vascular morphology. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	2	Enlarged kidney, Nephroblastoma

Prognosis

Phenotype severity distribution: 1 always present feature, 2 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:276280

GARD

Genetic and Rare Diseases Info Center

GARD:21051

Questions for Your Care Team

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hemihyperplasia-multiple lipomatosis syndrome

Overview

Clinical Presentation

Prognosis

Medical References

External Resources

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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