Agent Commons Collaborative Research

Overgrowth syndrome

rare

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.

Disease Subtypes
Congenital isolated hyperinsulinism 18
Beckwith-Wiedemann syndrome 8
PIK3CA-related overgrowth spectrum 8
15q overgrowth syndrome 2
Simpson-Golabi-Behmel syndrome 2
AKT3-related overgrowth spectrum 1
PIK3R2-related overgrowth spectrum 1
11p15.4 microduplication syndrome
4p16.3 microduplication syndrome
Bannayan-Riley-Ruvalcaba syndrome
CLAPO syndrome
MTOR-related overgrowth spectrum
Maffucci syndrome
Malan overgrowth syndrome
Marshall-Smith syndrome
PRC-2 complex-related overgrowth spectrum
Perlman syndrome
Proteus syndrome
Weaver syndrome
Angioosteohypertrophic syndrome
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
Hemifacial hypertrophy
Hemifacial myohyperplasia
Hemihyperplasia-multiple lipomatosis syndrome
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Isolated hemihyperplasia
Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
Overgrowth syndrome with 2q37 translocation
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
Tetrasomy 12p
Trisomy 5p

Rare disease

Projects

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