Overgrowth/obesity syndrome

Overgrowth/obesity syndrome (Orphanet code 139024) is not a single disease but rather a clinical grouping (category) used by Orphanet to classify a collection of rare genetic conditions that share the common features of excessive body growth and/or obesity as primary manifestations. These syndromes are characterized by abnormal increases in body size, which may present as generalized overgrowth (increased height, weight, and/or head circumference), segmental overgrowth (asymmetric enlargement of specific body regions), or syndromic obesity (obesity occurring alongside other developmental or dysmorphic features). The body systems affected vary depending on the specific underlying syndrome but commonly include the skeletal, endocrine, neurological, and metabolic systems. Many of these conditions are associated with intellectual disability, distinctive facial features, and various organ-specific complications. Because this is a broad disease category rather than a single entity, the genetic causes, inheritance patterns, and clinical presentations are highly heterogeneous. Individual syndromes within this group include conditions such as Beckwith-Wiedemann syndrome, Sotos syndrome, Weaver syndrome, Simpson-Golabi-Behmel syndrome, Bardet-Biedl syndrome, and many others, each with distinct genetic etiologies and clinical courses. Treatment approaches are syndrome-specific and generally supportive, focusing on managing individual symptoms such as metabolic complications, orthopedic issues, endocrine abnormalities, and developmental delays. Surveillance for associated complications, including increased tumor risk in certain overgrowth syndromes, is an important component of clinical management. Genetic counseling is recommended for affected individuals and their families to clarify the specific diagnosis and recurrence risk.

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