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+short desc, expanded infobox →Signs and symptoms: wrote section, moved content from other sections where appropriate →Genetics: simplified, removed old content that incorrectly attributed Perlman to ch11p15 mutation →Management and prognosis: renamed "treatment" section as "management" Is more appropriate. Removed Template:Urologic neoplasia. Added/removed some categories
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{{Short description|Overgrowth syndrome caused by DIS3L2 gene mutation}}
{{Infobox medical condition (new)
{{Infobox medical condition
⚫
| synonyms = Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome
| name = Perlman syndrome
| name = Perlman syndrome
⚫
| synonyms = Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome
| image = Autosomal recessive - en.svg
| image =
| caption = Perlman syndrome has an autosomal recessive pattern of inheritance.
| meshName =
| caption =
| meshNumber =
| pronounce =
| pronounce =
| field =
| field = [[Medical genetics]], [[Childhood cancer|pediatric oncology]]
| symptoms =
| symptoms = Overgrowth, kidney dysplasia, facial dysmorphisms
| complications =
| complications = [[Wilms' tumor]]
| onset =
| onset = Prenatal or at birth
| duration =
| duration = Lifelong
| types =
| types =
| causes =
| causes = ''[[DIS3L2]]'' mutation
| risks =
| risks =
| diagnosis =
| diagnosis =
| differential =
| differential = [[Beckwith–Wiedemann syndrome]], [[Simpson–Golabi–Behmel syndrome]]
| prevention =
| prevention =
| treatment =
| treatment =
| medication =
| medication =
| prognosis =
| prognosis = High neonatal mortality
| frequency =
| frequency = 30 reported cases<ref name="orphanet"/>
| deaths =
| deaths =
| named after = [[Max Perlman]]
| QID = Q7169165
}}
}}


'''Perlman syndrome''' ('''PS''') (also called '''renal hamartomas''', '''nephroblastomatosis''' and '''fetal gigantism''') is a rare [[overgrowth syndrome|overgrowth disorder]] present at birth. It is characterized by [[polyhydramnios]] and fetal overgrowth, including [[macrocephaly]], neonatal [[macrosomia]], [[visceromegaly]], [[dysmorphic]] facial features, and an increased risk for [[Wilms' tumor]] at an early age. The prognosis for Perlman syndrome is poor and it is associated with a high [[neonatal mortality]].
'''Perlman syndrome''' ('''PS'''), also known as '''nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome''', is a rare [[overgrowth syndrome]] caused by [[Dominance (genetics)|autosomal recessive]] mutations in the ''[[DIS3L2]]'' gene. PS is characterized by [[macrocephaly]], neonatal [[macrosomia]], [[nephromegaly]], renal dysplasia, [[dysmorphic]] facial features, and increased risk for [[Wilms' tumor]]. The syndrome is associated with high [[neonatal mortality]].<ref name="orphanet"/><ref name="pmid18780370"/>

Perlman syndrome is an uncommon [[genetic disorder]] grouped with overgrowth syndrome in which an abnormal increase is often noted at birth in the size of the body or a body part of the infant. The disorder, also called renal hamartomas, nephroblastomatosis and fetal gigantism, has also been grouped with [[Renal cell carcinoma]].<ref name='orphanet' /> The characteristic features include [[polyhydramnios]], fetal overgrowth, including [[macrocephaly]], neonatal [[macrosomia]], visceromegaly, [[dysmorphic]] facial features, and an increased risk for [[Wilms' tumor]] at an early age.<ref name="pmid3024486">{{cite journal |author=Perlman M |title=Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism, and multiple congenital anomalies. |journal=Am J Med Genet |volume=25 |issue=Pt 4 |pages=793–5 |date=December 1986 |pmid=3024486 |doi=10.1002/ajmg.1320250418}}</ref>


==Signs and symptoms==
==Signs and symptoms==
Perlman syndrome may be detected as early as [[Gestational age|gestational week]] 18 by [[Obstetric ultrasonography|prenatal ultrasound]]. In the first [[Pregnancy#Trimesters|trimester]], [[cystic hygroma]] and thickened [[nuchal scan|nuchal translucency]] may be observed. [[Macrosomia]], [[macrocephaly]], enlarged kidneys, [[macroglossia]], cardiac abnormalities, and visceromegaly may become evident by the second and third trimesters.<ref name="orphanet"/><ref name="Benacerraf2007"/> [[Polyhydramnios]] is frequently observed.<ref name="pmid18780370"/>
{{Empty section|date=May 2022}}
⚫
== Genetics ==


Characteristic facial features of Perlman syndrome include a [[Hypotonia|hypotonic]] appearance with an open mouth, [[macrocephaly]], upsweeping anterior scalp line, deep-set eyes, depressed [[nasal bridge]], everted upper lip, and mild [[micrognathia]].<ref name="pmid3024486"/>
The gene thought to cause some of the cases of Perlman syndrome is ''[[DIS3L2]]'' found on [[chromosome 2]] at 2q37.2 and is thought to have an important role in the mitotic cell cycle. Although both sexes are affected, the sex ratio of male to female is 2:1. The syndrome has been described in both [[consanguineous]] and non-consanguineous couplings.<ref name='Piccione'>{{cite journal | title = Perlman syndrome (renal hamartomas, nephroblastomatosis and fetal gigantism) | journal = Atlas Genet Cytogenet Oncol Haematol | date = December 2006 | first = Maria | last = Piccione |author2=Giovanni Corsello | url = http://AtlasGeneticsOncology.org/Kprones/PerlmanID10117.html | access-date = 2010-10-18}}</ref>
⚫
No chromosomal abnormalities have been observed, except for in the case of Chernos et al., which showed a ''de novo'' mutation — an extra [[G banding|G positive band]], a [[genetic mutation]] that neither parent possessed nor transmitted — on the tip of the short arm of [[chromosome 11 (human)|chromosome 11]].<ref name="pmc1683946">{{cite journal |vauthors=Chernos JE, Fowler SB, Cox DM |title=A case of Perlman syndrome associated with a cytogenetic abnormality of chromosome 11 (abstract) |journal=Am J Hum Genet |volume=47(suppl) |issue=Suppl |pages=A28 |date=September 1990 |pmc=1683946}}</ref>


Diagnosis is made based on the individual's phenotypic features and confirmed by histologic examination of the kidneys and/or molecular [[genetic testing]].<ref name="pmid18780370"/> Bilateral kidney hamartomas with or without nephroblastomatosis are commonly observed.<ref name="pmid3024486"/><ref name="pmid4315293"/>
==Diagnosis==
The [[diagnosis]] of Perlman syndrome is based on observed phenotypic features and confirmed by [[histological]] examination of the kidneys. [[Prenatal diagnosis]] is possible for families that have a genetic disposition for Perlman syndrome although there is no conclusive laboratory test to confirm the diagnosis. Fetal overgrowth, particularly with an [[occipitofrontal circumference]] (OFC) greater than the 90th centile for [[Gestational age (obstetrics)|gestational age]], as well as an excess of [[amniotic fluid]] in the [[amniotic sac]] (polyhydramnios), may be the first signs of Perlman.<ref name='Piccione' /> Using ultrasound diagnosis, Perlman syndrome has been detected at 18 weeks. During the [[first trimester]], the common abnormalities of the syndrome observed by ultrasound include [[cystic hygroma]] and a thickened [[nuchal lucency]]. Common findings for the second and third trimesters include macrosomia, enlarged kidneys, renal tumors (both hamartoma and Wilms), cardiac abnormalities and visceromegaly.<ref name=Benacerraf2007 >{{citation | last=Benacerraf | first=Beryl R. | year=2007 | title=Ultrasound of fetal syndromes | edition=2 | publisher=Elsevier Health Sciences | isbn=978-0-443-06641-2 | page=147 | url=https://books.google.com/books?id=1MHFF0UOKAUC }}</ref>


⚫
== Genetics ==
Prompt recognition and identification of the disorder along with accurate follow-up and clinical assistance is recommended as the prognosis for Perlman is severe and associated with a high neonatal death rate.<ref name='Piccione' /><ref name='Emery' />
Perlman syndrome is caused by mutations in the ''[[DIS3L2]]'' gene found on [[chromosome 2]] at 2q37.2. ''DIS3L2'' is involved in RNA degradation and cell cycle control.<ref name="pmid22306653"/> PS is genetically distinct from [[Beckwith–Wiedemann syndrome]] and [[Simpson–Golabi–Behmel syndrome]], which are caused by mutations in [[Chromosome 11|11p15.5]] and ''[[Glypican 3|GPC3]]'' respectively.<ref name="orphanet"/> It is inherited in an autosomal recessive manner.<ref name="pmid6093533"/>

===Differential diagnosis===
Perlman syndrome shares clinical overlaps with other overgrowth disorders, with similarities to [[Beckwith–Wiedemann syndrome]] and [[Simpson–Golabi–Behmel syndrome]] having been particularly emphasized in scientific study. Similarities with Beckwith-Wiedemann syndrome include polyhydramnios, macrosomia, nephromegaly and hypoglycaemia. It is the distinctive facial [[dysmorphology]] of Perlman, including deep-set eyes, depressed [[nasal bridge]], everted upper lip, and macrocephaly which allows the two conditions to be distinguished from one another. Diagnosis of Perlman syndrome also overlaps with other disorders associated with Wilms tumor, namely, [[Sotos syndrome]] and [[Weaver syndrome]].<ref name='Piccione' /><ref name='Emery' >{{citation | title=Emery and Rimoisn's principles and practice of medical genetics, Volume 2 | publisher=Elsevier Health Sciences | isbn=978-0-443-06870-6 | page=1522 | url=https://books.google.com/books?id=uc9fmqARPf8C }}</ref>


==Management and prognosis==
==Treatment==
Perlman syndrome is associated with a high neonatal death rate due to renal failure and/or refractory [[hypoxemia]].<ref name="Emery"/> Most individuals who survive beyond the neonatal period develop a [[Wilms' tumor]]; nearly all display some degree of [[developmental delay]].<ref name="pmid18780370"/><ref name="pmid16278893"/> Treatment is supportive in nature.<ref name="orphanet"/>
{{Empty section|date=August 2017}}


== Epidemiology ==
== Epidemiology ==
Perlman syndrome is a [[rare disease]] with an estimated incidence of less than 1 in 1,000,000. As of 2008, fewer than 30 patients had ever been reported in the world literature.<ref name='orphanet'>{{cite web | url = http://www.orpha.net//consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2849 | title = Perlman syndrome | access-date = 2010-10-21 | date = May 2008 | publisher = Orphanet}}</ref>
Perlman syndrome is a [[rare disease]] with an estimated incidence of less than 1 in 1,000,000. As of 2008, fewer than 30 patients had ever been reported in the world literature.<ref name="orphanet"/> PS has been described in both [[consanguineous]] and non-consanguineous couplings. The observed sex ratio is 2 males : 1 female.<ref name="agcoh"/>


== See also ==
== See also ==
* [[Beckwith–Wiedemann syndrome]]
* [[Beckwith–Wiedemann syndrome]]
* [[Simpson–Golabi–Behmel syndrome]]
* [[Multiple abnormalities]]
* [[Multiple abnormalities]]
* [[Renal cell carcinoma]]
* [[Overgrowth syndrome]]
* [[Wilms' tumor]]


== References ==
== References ==
{{Reflist}}
{{Reflist |refs=
<ref name="orphanet">{{cite web | url = http://www.orpha.net//consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2849 | title = Perlman syndrome | access-date = 2010-10-21 | date = May 2008 | publisher = Orphanet}}</ref>

<ref name="pmid18780370">{{cite journal| author=Alessandri JL, Cuillier F, Ramful D, Ernould S, Robin S, de Napoli-Cocci S | display-authors=etal| title=Perlman syndrome: report, prenatal findings and review | journal=Am J Med Genet A | year= 2008 | volume= 146A | issue= 19 | pages= 2532-7 | pmid=18780370 | doi=10.1002/ajmg.a.32391}}</ref>

<ref name="pmid3024486">{{cite journal |author=Perlman M |title=Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism, and multiple congenital anomalies. |journal=Am J Med Genet |volume=25 |issue=Pt 4 |pages=793–5 |date=December 1986 |pmid=3024486 |doi=10.1002/ajmg.1320250418}}</ref>

<ref name="pmid22306653">{{cite journal| author=Astuti D, Morris MR, Cooper WN, Staals RH, Wake NC, Fews GA | display-authors=etal| title=Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. | journal=Nat Genet | year= 2012 | volume= 44 | issue= 3 | pages= 277-84 | pmid=22306653 | doi=10.1038/ng.1071}} </ref>

<ref name="agcoh">{{cite web |last1=Piccione |first1=Maria |last2=Corsello |first2=Giovanni |title = Perlman syndrome (renal hamartomas, nephroblastomatosis and fetal gigantism) |website=Atlas of Genetics and Cytogenetics in Oncology and Haematology |publisher=Institute for Biomedical Research of Salamanca |date = 2006-12-01 |url=https://atlasgeneticsoncology.org/cancer-prone-disease/10117/perlman-syndrome-(renal-hamartomas-nephroblastomatosis-and-fetal-gigantism) |access-date=2024-01-10}}</ref>

<ref name="Benacerraf2007">{{citation | last=Benacerraf | first=Beryl R. | year=2007 | title=Ultrasound of fetal syndromes | edition=2 | publisher=Elsevier Health Sciences | isbn=978-0-443-06641-2 | page=147 | url=https://books.google.com/books?id=1MHFF0UOKAUC}}</ref>

<ref name="Emery">{{cite book |author=Rimoin DL, Emery AEH |title=Emery and Rimoin's Principles and Practice of Medical Genetics |volume=2 |edition=5 |publisher=Churchill Livingstone Elsevier |year=2007 | isbn=978-0-443-06870-6 |page=1522 | url=https://books.google.com/books?id=FfxPAQAAIAAJ }}</ref>

<ref name="pmid4315293">{{cite journal| author=Liban E, Kozenitzky IL| title=Metanephric hamartomas and nephroblastomatosis in siblings. | journal=Cancer | year= 1970 | volume= 25 | issue= 4 | pages= 885-8 | pmid=4315293 | doi=10.1002/1097-0142(197504)35:4<1212::AID-CNCR2820350427>3.0.CO;2-2}}</ref>

<ref name="pmid16278893">{{cite journal| author=Piccione M, Cecconi M, Giuffrè M, Lo Curto M, Malacarne M, Piro E | display-authors=etal| title=Perlman syndrome: clinical report and nine-year follow-up. | journal=Am J Med Genet A | year= 2005 | volume= 139A | issue= 2 | pages= 131-5 | pmid=16278893 | doi=10.1002/ajmg.a.30994}}</ref>

<ref name="pmid6093533">{{cite journal| author=Neri G, Martini-Neri ME, Katz BE, Opitz JM| title=The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. | journal=Am J Med Genet | year= 1984 | volume= 19 | issue= 1 | pages= 195-207 | pmid=6093533 | doi=10.1002/ajmg.1320190120}}</ref>

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<!-- COMMENTED OUT THIS REF BECAUSE chr11p15 ABNORMALITY WOULD NOW BE DIAGNOSED AS BWS <ref name="pmc1683946">{{cite journal |vauthors=Chernos JE, Fowler SB, Cox DM |title=A case of Perlman syndrome associated with a cytogenetic abnormality of chromosome 11 |journal=Am J Hum Genet |volume=47(suppl) |issue=Suppl |pages=A28 |date=September 1990 |pmc=1683946}}</ref> -->
}}

== External links ==
== External links ==
{{Medical resources
{{Medical resources
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| Orphanet = 2849
| Orphanet = 2849
}}
}}
{{Urologic neoplasia}}
{{Phakomatoses and other congenital malformations not elsewhere classified}}


{{Template:Congenital abnormality syndromes}}
[[Category:Genetic disorders with OMIM but no gene]]
[[Category:Diseases named for discoverer]]
[[Category:Rare syndromes]]
[[Category:Rare syndromes]]
[[Category:Syndromes affecting head size]]
[[Category:Syndromes affecting the kidneys]]
[[Category:Syndromes with craniofacial abnormalities]]
[[Category:Syndromes with craniofacial abnormalities]]
[[Category:Syndromes with macrocephaly]]
[[Category:Syndromes with tumors]]
[[Category:Syndromes with tumors]]

Revision as of 04:16, 11 January 2024

Perlman syndrome
Other namesNephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome
SpecialtyMedical genetics, pediatric oncology
SymptomsOvergrowth, kidney dysplasia, facial dysmorphisms
ComplicationsWilms' tumor
Usual onsetPrenatal or at birth
DurationLifelong
CausesDIS3L2 mutation
Differential diagnosisBeckwith–Wiedemann syndrome, Simpson–Golabi–Behmel syndrome
PrognosisHigh neonatal mortality
Frequency30 reported cases[1]
Named afterMax Perlman

Perlman syndrome (PS), also known as nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome, is a rare overgrowth syndrome caused by autosomal recessive mutations in the DIS3L2 gene. PS is characterized by macrocephaly, neonatal macrosomia, nephromegaly, renal dysplasia, dysmorphic facial features, and increased risk for Wilms' tumor. The syndrome is associated with high neonatal mortality.[1][2]

Signs and symptoms

Perlman syndrome may be detected as early as gestational week 18 by prenatal ultrasound. In the first trimester, cystic hygroma and thickened nuchal translucency may be observed. Macrosomia, macrocephaly, enlarged kidneys, macroglossia, cardiac abnormalities, and visceromegaly may become evident by the second and third trimesters.[1][3] Polyhydramnios is frequently observed.[2]

Characteristic facial features of Perlman syndrome include a hypotonic appearance with an open mouth, macrocephaly, upsweeping anterior scalp line, deep-set eyes, depressed nasal bridge, everted upper lip, and mild micrognathia.[4]

Diagnosis is made based on the individual's phenotypic features and confirmed by histologic examination of the kidneys and/or molecular genetic testing.[2] Bilateral kidney hamartomas with or without nephroblastomatosis are commonly observed.[4][5]

Genetics

Perlman syndrome is caused by mutations in the DIS3L2 gene found on chromosome 2 at 2q37.2. DIS3L2 is involved in RNA degradation and cell cycle control.[6] PS is genetically distinct from Beckwith–Wiedemann syndrome and Simpson–Golabi–Behmel syndrome, which are caused by mutations in 11p15.5 and GPC3 respectively.[1] It is inherited in an autosomal recessive manner.[7]

Management and prognosis

Perlman syndrome is associated with a high neonatal death rate due to renal failure and/or refractory hypoxemia.[8] Most individuals who survive beyond the neonatal period develop a Wilms' tumor; nearly all display some degree of developmental delay.[2][9] Treatment is supportive in nature.[1]

Epidemiology

Perlman syndrome is a rare disease with an estimated incidence of less than 1 in 1,000,000. As of 2008, fewer than 30 patients had ever been reported in the world literature.[1] PS has been described in both consanguineous and non-consanguineous couplings. The observed sex ratio is 2 males : 1 female.[10]

See also

References

  1. ^ a b c d e f "Perlman syndrome". Orphanet. May 2008. Retrieved 2010-10-21.
  2. ^ a b c d 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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  3. ^ Benacerraf, Beryl R. (2007), Ultrasound of fetal syndromes (2 ed.), Elsevier Health Sciences, p. 147, ISBN 978-0-443-06641-2
  4. ^ a b 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.
  5. ^ 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.
  6. ^ 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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  7. ^ 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)
  8. ^ 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.
  9. ^ 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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  10. ^ 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.
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