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Megalencephaly is a growth development disorder in which the brain is abnormally large. It is characterized by a brain with an average weight that is 2.5 standard deviations above the mean of the general population. Approximately 1 out of 50 children (2%) are said to have the characteristics of megalencephaly in the general population.
Macrocephaly is a condition in which circumference of the human head is abnormally large. It may be pathological or harmless, and can be a familial genetic characteristic. People diagnosed with macrocephaly will receive further medical tests to determine whether the syndrome is accompanied by particular disorders. Those with benign or familial macrocephaly are considered to have megalencephaly.
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. The clinical and radiographic symptoms of Proteus syndrome are highly variable, as are its orthopedic manifestations.
Beckwith–Wiedemann syndrome is an overgrowth disorder usually present at birth, characterized by an increased risk of childhood cancer and certain congenital features. A minority (<15%) of cases of BWS are familial, meaning that a close relative may also have BWS, and parents of an affected child may be at increased risk of having other children with BWS. While children with BWS are at increased risk of childhood cancer, most children with BWS do not develop cancer and the vast majority of children who do develop cancer can be treated successfully.
MOMO syndrome is an extremely rare genetic disorder which belongs to the overgrowth syndromes and has been diagnosed in only seven cases around the world, and occurs in 1 in 100 million births. The name is an acronym of the four primary aspects of the disorder: Macrosomia, Obesity, Macrocephaly and Ocular abnormalities. It is unknown if it is a life-limiting condition. MOMO syndrome was first diagnosed in 1993 by Professor Danilo Moretti-Ferreira, a Brazilian researcher in the Genetic and Clinical Studies of neurodevelopmental disorders.
Cowden syndrome is an autosomal dominant inherited condition characterized by benign overgrowths called hamartomas as well as an increased lifetime risk of breast, thyroid, uterine, and other cancers. It is often underdiagnosed due to variability in disease presentation, but 99% of patients report mucocutaneous symptoms by age 20–29. Despite some considering it a primarily dermatologic condition, Cowden's syndrome is a multi-system disorder that also includes neurodevelopmental disorders such as macrocephaly.
Pacman dysplasia is a lethal autosomal recessive skeletal dysplasia. The dysplasia is present during fetal development.
Simpson–Golabi–Behmel syndrome (SGBS) is a rare inherited congenital disorder that can cause craniofacial, skeletal, vascular, cardiac, and renal abnormalities. There is a high prevalence of cancer associated in those with SGBS which includes wilms tumors, neuroblastoma, tumors of the adrenal gland, liver, lungs and abdominal organs. The syndrome is inherited in an X-linked recessive manner. Females that possess one copy of the mutation are considered to be carriers of the syndrome but may still express varying degrees of the phenotype, suffering mild to severe malady. Males experience a higher likelihood of fetal death.
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. Nevertheless, the musculoskeletal features are central to the diagnosis of some syndromes such as Proteus syndrome.
Boomerang dysplasia is a lethal form of osteochondrodysplasia known for a characteristic congenital feature in which bones of the arms and legs are malformed into the shape of a boomerang. Death usually occurs in early infancy due to complications arising from overwhelming systemic bone malformations.
Acrocallosal syndrome is an extremely rare autosomal recessive syndrome characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and intellectual disabilities, and other symptoms. The syndrome was first described by Albert Schinzel in 1979. Mutations in KIF7 are causative for ACLS, and mutations in GLI3 are associated with a similar syndrome.
Frontonasal dysplasia (FND) is a congenital malformation of the midface. For the diagnosis of FND, a patient should present at least two of the following characteristics: hypertelorism, a wide nasal root, vertical midline cleft of the nose and/or upper lip, cleft of the wings of the nose, malformed nasal tip, encephalocele or V-shaped hair pattern on the forehead. The cause of FND remains unknown. FND seems to be sporadic (random) and multiple environmental factors are suggested as possible causes for the syndrome. However, in some families multiple cases of FND were reported, which suggests a genetic cause of FND.
Fibrochondrogenesis is a rare autosomal recessive form of osteochondrodysplasia, causing abnormal fibrous development of cartilage and related tissues.
Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in the neonatal period. Fryns (1987) reviewed the syndrome.
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 include macrocephaly, congenital macrosomia, extensive cutaneous capillary malformation, body asymmetry, polydactyly or syndactyly of the hands and feet, lax joints, doughy skin, variable developmental delay and other neurologic problems such as seizures and low muscle tone.
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 intellectual disability, delayed motor, cognitive, and social development, hypotonia, and speech impairments. Children with Sotos syndrome tend to be large at birth and are often taller, heavier, and have relatively large skulls (macrocephaly) than is normal for their age. Signs of the disorder, which vary among individuals, include a disproportionately large skull with a slightly protrusive forehead, large hands and feet, large mandible, hypertelorism, and downslanting eyes. Clumsiness, an awkward gait, and unusual aggressiveness or irritability may also occur.
Diffuse capillary malformation with overgrowth (DCMO) is a subset of capillary malformations (CM) associated with hypertrophy, i.e. increased size of body structures. CM can be considered an umbrella term for various vascular anomalies caused by increased diameter or number of capillary blood vessels. It is commonly referred to as "port-wine stain", and is thought to affect approximately 0.5% of the population. Typically capillaries in the papillary dermis are involved, and this gives rise to pink or violaceous colored lesions. The majority of DCMO lesions are diffuse, reticulated pale-colored stains.
Schneckenbecken dysplasia is a rare pre-natally fatal hereditary autosomal recessive condition which affects the bones and pre-natal growth.
References
- 1 2 3 4 5 6 "Perlman syndrome". Orphanet. May 2008. Retrieved 2010-10-21.
- 1 2 3 4 Alessandri JL, Cuillier F, Ramful D, Ernould S, Robin S, de Napoli-Cocci S; et al. (2008). "Perlman syndrome: report, prenatal findings and review". Am J Med Genet A. 146A (19): 2532–7. doi:10.1002/ajmg.a.32391. PMID 18780370. S2CID 205309637.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ↑ Benacerraf, Beryl R. (2007), Ultrasound of fetal syndromes (2 ed.), Elsevier Health Sciences, p. 147, ISBN 978-0-443-06641-2
- 1 2 Perlman M (December 1986). "Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism, and multiple congenital anomalies". Am J Med Genet. 25 (Pt 4): 793–5. doi:10.1002/ajmg.1320250418. PMID 3024486.
- ↑ Liban E, Kozenitzky IL (1970). "Metanephric hamartomas and nephroblastomatosis in siblings". Cancer. 25 (4): 885–8. doi:10.1002/1097-0142(197504)35:4<1212::AID-CNCR2820350427>3.0.CO;2-2. PMID 4315293.
- ↑ Astuti D, Morris MR, Cooper WN, Staals RH, Wake NC, Fews GA; et al. (2012). "Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility". Nat Genet. 44 (3): 277–84. doi:10.1038/ng.1071. PMID 22306653. S2CID 5363560.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ↑ Neri G, Martini-Neri ME, Katz BE, Opitz JM (1984). "The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies". Am J Med Genet. 19 (1): 195–207. doi:10.1002/ajmg.1320190120. PMID 6093533.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ↑ Rimoin DL, Emery AEH (2007). Emery and Rimoin's Principles and Practice of Medical Genetics. Vol. 2 (5 ed.). Churchill Livingstone Elsevier. p. 1522. ISBN 978-0-443-06870-6.
- ↑ Piccione M, Cecconi M, Giuffrè M, Lo Curto M, Malacarne M, Piro E; et al. (2005). "Perlman syndrome: clinical report and nine-year follow-up". Am J Med Genet A. 139A (2): 131–5. doi:10.1002/ajmg.a.30994. PMID 16278893. S2CID 26889314.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ↑ Piccione, Maria; Corsello, Giovanni (2006-12-01). "Perlman syndrome (renal hamartomas, nephroblastomatosis and fetal gigantism)". Atlas of Genetics and Cytogenetics in Oncology and Haematology. Institute for Biomedical Research of Salamanca. Retrieved 2024-01-10.