overgrowth syndrome
Findings
No curated finding names overgrowth syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome.
Definition from the Mondo Disease Ontology (MONDO:0019716), read 2026-09-29. CC BY 4.0.
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, hp/releases/2026-09-01.
- OvergrowthMondoHP:0001548
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RNF135HGNC:21158
- Limited · Ambry Genetics · Autosomal dominant · 2019
Where it sits
- Narrower terms (31)
- 11p15.4 microduplication syndrome
- 15q overgrowth syndrome
- 4p16.3 microduplication syndrome
- AKT3-related overgrowth spectrum
- angioosteohypertrophic syndrome
- Bannayan-Riley-Ruvalcaba syndrome
- Beckwith-Wiedemann syndrome
- CLAPO syndrome
- congenital isolated hyperinsulinism
- global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
- hemifacial hypertrophy
- hemifacial myohyperplasia
- hemihyperplasia-multiple lipomatosis syndrome
- hypoinsulinemic hypoglycemia and body hemihypertrophy
- isolated hemihyperplasia
- Maffucci syndrome
- Malan overgrowth syndrome
- Marshall-Smith syndrome
- megalencephaly-severe kyphoscoliosis-overgrowth syndrome
- MTOR-related overgrowth spectrum