Overgrowth syndrome
Rare childhood disorders marked by tissue overgrowth.
Overgrowth syndromes are a group of rare disorders in children characterized by tissue hypertrophy. They involve any of the three embryonic tissue layers and may manifest as localized or generalized tissue overgrowth, affecting latitudinal and longitudinal growth. The syndromes show overlapping clinical and radiologic features, and their genetic bases are still being understood.
- Field
- Pediatric genetics and oncology
- Known for
- Rare disorders with tissue hypertrophy and increased risk of embryonic tumors
- Examples
- Beckwith–Wiedemann syndrome, Proteus syndrome, Klippel–Trénaunay syndrome
Lore & Background
Overgrowth syndromes are a group of rare disorders in children defined by tissue hypertrophy. The syndromes may involve any of the three embryonic tissue layers and can present as localized or generalized overgrowth, affecting both latitudinal and longitudinal growth. Musculoskeletal features are central to the diagnosis of some syndromes, such as Proteus syndrome.
Reader's Guide
The time of presentation is an important contributor to the differential diagnosis. For instance, Klippel–Trénaunay syndrome can be readily detectable at birth, while Proteus syndrome usually presents postnatally, characteristically between the second and third year of life. Children with overgrowth syndromes are at increased risk of embryonic tumor development. The genetic bases of these syndromes are still unfolding, and individual syndromes overlap in clinical and radiologic features.
Did You Know?
- Overgrowth syndromes are characterized by tissue hypertrophy in children.
- Any of the three embryonic tissue layers may be involved.
- Proteus syndrome usually presents between the second and third year of life.
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