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overgrowth syndrome; overgrowth malformation disorder

Genetics: - some associated with PIK3CA gene mutation - PIK3CA overgrowth syndrome - also see - Beckwith-Wiedemann syndrome - Simpson dysmorphia syndrome Complications: - overgrowth syndromes with PIK3CA gene mutation associated with frequent excessive scarring after surgery [1]

Specific

Beckwith-Wiedemann; exomphalos-macroglossia-gigantism syndrome PIK3CA overgrowth syndrome Simpson-Golabi-Behmel syndrome; Simpson dysmorphia syndrome; X-linked dysplasia gigantism syndrome

General

developmental disorder syndrome (multisystem disorder) genetic syndrome (multisystem disorder)

References

  1. Steiner JE, Cottrell CE, Streicher JL et al Scarring in Patients With PIK3CA-Related Overgrowth Syndromes. JAMA Dermatol. Published online March 7, 2018. PMID: 29516089 https://jamanetwork.com/journals/jamadermatology/article-abstract/2673443