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.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. . . Nevertheless, the musculoskeletal features are central to the diagnosis of some syndromes such as

Proteus syndrome Proteus syndrome is a rare disorder with a genetic background that can cause tissue overgrowth involving all three embryonic lineages. Patients with Proteus syndrome tend to have an increased risk of embryonic tumor development.Freedberg, et al. ...

.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. . . . 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 Klippel–Trénaunay syndrome, formerly Klippel–Trénaunay–Weber syndrome and sometimes angioosteohypertrophy syndrome and hemangiectatic hypertrophy, is a rare congenital medical condition in which blood vessels and/or lymph vessels fail to ...

can be readily detectable at birth. In contrast, other overgrowth syndromes such as

usually present in the postnatal period, characteristically between the second and third year of life. In general, children with overgrowth syndromes are at increased risk of embryonic tumor development.

List of overgrowth syndromes

Examples of overgrowth syndromes include: * Beckwith–Wiedemann syndrome *

CLOVES syndrome CLOVES syndrome is a rare overgrowth syndrome with complex vascular anomalies. CLOVES syndrome affects people with various symptoms, ranging from mild fatty soft-tissue tumors to vascular malformations encompassing the spine or internal organs. It ...

Fragile X syndrome Fragile X syndrome (FXS) is a genetic disorder characterized by mild-to-moderate intellectual disability. The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled. Physical features may ...

Macrocephaly-capillary malformation Macrocephaly-capillary malformation (M-CM) is a multiple malformation syndrome causing abnormal body and head overgrowth and cutaneous, vascular, neurologic, and limb abnormalities. Though not every patient has all features, commonly found signs ...

Neurofibromatosis Neurofibromatosis (NF) is a group of three conditions in which tumors grow in the nervous system. The three types are neurofibromatosis type I (NF1), neurofibromatosis type II Neurofibromatosis type II (also known as MISME syndrome – multi ...

Simpson–Golabi–Behmel syndrome Simpson–Golabi–Behmel syndrome (SGBS), is a rare inherited congenital disorder that can cause craniofacial, skeletal, cardiac, and renal abnormalities. The syndrome is inherited in an X-linked recessive fashion, where males express the phenoty ...

Sotos syndrome Sotos syndrome is a rare genetic disorder characterized by excessive physical growth during the first years of life. Excessive growth often starts in infancy and continues into the early teen years. The disorder may be accompanied by autism, mild ...

Sturge–Weber syndrome Sturge–Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. It is one of the phakomatoses and is often associated with port-wine stains of the face, glaucoma, seizures, i ...

* Tatton–Brown–Rahman syndrome (

DNMT3A DNA (cytosine-5)-methyltransferase 3A is an enzyme that catalyzes the transfer of methyl groups to specific CpG structures in DNA, a process called DNA methylation. The enzyme is encoded in humans by the DNMT3A gene. This enzyme is responsible f ...

) *

Weaver syndrome Weaver syndrome is a rare autosomal dominant genetic disorder associated with rapid growth beginning in the prenatal period and continuing through the toddler and youth years. It is characterized by advanced osseous maturation and distinctive cra ...

References

External links

Overgrowth syndrome
entry in the public domain NCI Dictionary of Cancer Terms Growth disorders Growth hormones Human size Neuroendocrinology Syndromes {{oncology-stub

List of overgrowth syndromes

See also

References

External links