Overgrowth syndrome

Overgrowth syndrome

Overgrowth syndromes in children constitute a group of rare disorders that are characterised by tissue hypertrophy. Individual overgrowth syndromes have been shown to overlap with regard to clinical and radiologic features. The details of the genetic bases of these syndromes are unfolding. Any of the three embryonic tissue layers may be involved. The syndromes may manifest in localized or generalized tissue overgrowth. Latitudinal and longitudinal growth may be affected.^[1]^[2]^[3] Nevertheless, the musculoskeletal features are central to the diagnosis of some syndromes such as Proteus syndrome.^[2]

The time of presentation of children with overgrowth syndromes is an important contributor to the differential diagnosis. Children with some overgrowth syndromes such as Klippel–Trénaunay syndrome can be readily detectable at birth.^[3] In contrast, other overgrowth syndromes such as Proteus syndrome usually present in the postnatal period, characteristically between the second and third year of life.^[2] In general, children with overgrowth syndromes are at increased risk of embryonic tumor development.

List of overgrowth syndromes

Examples of overgrowth syndromes include:^{[citation needed]}

References

^ Ko JM (2013). "Genetic syndromes associated with overgrowth in childhood". Ann Pediatr Endocrinol Metab. 18(3):101-5. doi:10.6065/apem.2013.18.3.101. PMC 4027072
^ ^a ^b ^c EL-Sobky TA, Elsayed SM, EL Mikkawy DME (2015). "Orthopaedic manifestations of Proteus syndrome in a child with literature update". Bone Rep. 3:104-108. doi:10.1016/j.bonr.2015.09.004. PMC 5365241. PMID 28377973.
^ ^a ^b Lacerda L da S, Alves ÚD, Zanier JFC, Machado DC, Camilo GB, Lopes AJ (2014). "Differential diagnoses of overgrowth syndromes: The most important clinical and radiological disease manifestations". Radiol Res Pract. 2014:947451. doi:10.1155/2014/947451. PMC 4070411.

External links

Overgrowth syndrome entry in the public domain NCI Dictionary of Cancer Terms

This article incorporates public domain material from Dictionary of Cancer Terms. U.S. National Cancer Institute.

v t e Congenital abnormality syndromes
Craniofacial	Acrocephalosyndactyly Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Moebius syndrome Pierre Robin sequence
Short stature	1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome
Limbs	Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation/mesoderm: Caudal regression syndrome Ectromelia Sirenomelia VACTERL association
Overgrowth syndromes	Bannayan–Riley–Ruvalcaba syndrome Beckwith–Wiedemann syndrome Benign symmetric lipomatosis Klippel–Trénaunay syndrome Neurofibromatosis type I Perlman syndrome Proteus syndrome Sotos syndrome Tatton-Brown–Rahman syndrome Weaver syndrome
Laurence–Moon–Bardet–Biedl	Bardet–Biedl syndrome Laurence–Moon syndrome
Combined/other, known locus	2 (Feingold syndrome) 3 (Zimmermann–Laband syndrome) 4/13 (Fraser syndrome) 8 (Branchio-oto-renal syndrome, CHARGE syndrome) 12 (Keutel syndrome, Timothy syndrome) 15 (Marfan syndrome) 19 (Donohue syndrome) Multiple Fryns syndrome

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