Group of rare genetic disorders involving tissue hypertrophy
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–Weber 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.
Contents
1List of overgrowth syndromes
2See also
3References
4External links
List of overgrowth syndromes
Examples of overgrowth syndromes include:
Beckwith–Wiedemann syndrome
CLOVES syndrome
Fragile X syndrome
Klippel–Trénaunay–Weber syndrome
Macrocephaly-capillary malformation
Neurofibromatosis
Proteus syndrome
Simpson–Golabi–Behmel syndrome
Sotos syndrome
Sturge–Weber syndrome
Weaver syndrome
See also
Gigantism
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
^ abcEL-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.
^ abLacerda 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
Classification
D
ICD-10: Q87.3
External resources
Orphanet: 93460
Overgrowth syndrome entry in the public domain NCI Dictionary of Cancer Terms
This article incorporates public domain material from the U.S. National Cancer Institute document: "Dictionary of Cancer Terms".
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Congenital abnormality syndromes
Craniofacial
Acrocephalosyndactylia
Apert syndrome
Carpenter syndrome
Pfeiffer syndrome
Saethre–Chotzen syndrome
Sakati–Nyhan–Tisdale syndrome
Bonnet–Dechaume–Blanc syndrome
Other
Baller–Gerold syndrome
Cyclopia
Goldenhar syndrome
Möbius syndrome
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–Weber syndrome
Nail–patella syndrome
Rubinstein–Taybi syndrome
Gastrulation/mesoderm:
Caudal regression syndrome
Ectromelia
Sirenomelia
VACTERL association
Overgrowth syndromes
Beckwith–Wiedemann syndrome
Proteus syndrome
Perlman syndrome
Sotos syndrome
Weaver syndrome
Klippel–Trénaunay–Weber syndrome
Benign symmetric lipomatosis
Bannayan–Riley–Ruvalcaba syndrome
Neurofibromatosis type I
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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