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Perlman syndrome(PRLMNS)

MedGen UID:
162909
Concept ID:
C0796113
Disease or Syndrome
Synonyms: Nephroblastomatosis fetal ascites macrosomia and wilms tumor; PRLMNS; Renal hamartomas nephroblastomatosis and fetal gigantism
SNOMED CT: Perlman syndrome (722231005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): DIS3L2 (2q37.1)
 
Monarch Initiative: MONDO:0009965
OMIM®: 267000
Orphanet: ORPHA2849

Definition

Perlman syndrome (PRLMNS) is an autosomal recessive congenital overgrowth syndrome with similarities to Beckwith-Wiedemann syndrome (BWS; 130650). Affected children are large at birth, are hypotonic, and show organomegaly, characteristic facial dysmorphisms (inverted V-shaped upper lip, prominent forehead, deep-set eyes, broad and flat nasal bridge, and low-set ears), renal anomalies (nephromegaly and hydronephrosis), frequent neurodevelopmental delay, and high neonatal mortality. Perlman syndrome is associated with a high risk of Wilms tumor, with a 64% incidence in infants surviving beyond the neonatal period. The tumor is diagnosed at an earlier age in these individuals compared with sporadic cases (less than 2 years and 3-4 years of age, respectively), and there is a high frequency of bilateral tumors (55%). Histologic examination of the kidneys in children with Perlman syndrome shows frequent nephroblastomatosis, which is a precursor lesion for Wilms tumor (summary by Astuti et al., 2012). [from OMIM]

Clinical features

From HPO
Nephroblastoma
MedGen UID:
10221
Concept ID:
C0027708
Neoplastic Process
The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.
Renal hamartoma
MedGen UID:
690113
Concept ID:
C1266142
Neoplastic Process
A disordered proliferation of mature tissues that are native to the kidneys.
Nephroblastomatosis
MedGen UID:
390828
Concept ID:
C2675558
Finding
Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood.
Cryptorchidism
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Nephrogenic rest
MedGen UID:
452962
Concept ID:
C1320468
Anatomical Abnormality
Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney.
Aortic arch interruption
MedGen UID:
57773
Concept ID:
C0152419
Congenital Abnormality
Non-continuity of the arch of aorta with an atretic point or absent segment.
Abnormality of the cardiovascular system
MedGen UID:
116727
Concept ID:
C0243050
Congenital Abnormality
Any abnormality of the cardiovascular system.
Growth abnormality
MedGen UID:
808205
Concept ID:
C0262361
Finding
Large for gestational age
MedGen UID:
341215
Concept ID:
C1848395
Finding
The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.
Ascites
MedGen UID:
416
Concept ID:
C0003962
Disease or Syndrome
Accumulation of fluid in the peritoneal cavity.
Visceromegaly
MedGen UID:
22659
Concept ID:
C0042782
Pathologic Function
Abnormal increased size of the viscera of the abdomen.
Volvulus
MedGen UID:
21892
Concept ID:
C0042961
Disease or Syndrome
Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue.
Pancreatic islet-cell hyperplasia
MedGen UID:
108598
Concept ID:
C0597167
Finding
Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells.
Distal ileal atresia
MedGen UID:
481039
Concept ID:
C3279409
Finding
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Corpus callosum, agenesis of
MedGen UID:
104498
Concept ID:
C0175754
Congenital Abnormality
The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Congenital diaphragmatic hernia
MedGen UID:
68625
Concept ID:
C0235833
Congenital Abnormality
The presence of a hernia of the diaphragm present at birth.
Hypoplasia of the abdominal wall musculature
MedGen UID:
481037
Concept ID:
C3279407
Finding
Underdevelopment of the abdominal musculature.
Edema
MedGen UID:
4451
Concept ID:
C0013604
Pathologic Function
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Hypoglycemia
MedGen UID:
6979
Concept ID:
C0020615
Disease or Syndrome
A decreased concentration of glucose in the blood.
Open mouth
MedGen UID:
116104
Concept ID:
C0240379
Finding
A facial appearance characterized by a permanently or nearly permanently opened mouth.
Abnormal facial shape
MedGen UID:
98409
Concept ID:
C0424503
Finding
An abnormal morphology (form) of the face or its components.
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Tented upper lip vermilion
MedGen UID:
326574
Concept ID:
C1839767
Finding
Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Long upper lip
MedGen UID:
462845
Concept ID:
C3151495
Finding
Increased width of the upper lip.
Everted upper lip vermilion
MedGen UID:
869272
Concept ID:
C4023698
Finding
Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip.
Polyhydramnios
MedGen UID:
6936
Concept ID:
C0020224
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPerlman syndrome
Follow this link to review classifications for Perlman syndrome in Orphanet.

Recent clinical studies

Etiology

Akramov NR, Shavaliev RF, Osipova IV
Medicine (Baltimore) 2021 May 14;100(19):e25864. doi: 10.1097/MD.0000000000025864. PMID: 34106634Free PMC Article
Morris MR, Astuti D, Maher ER
Am J Med Genet C Semin Med Genet 2013 May;163C(2):106-13. doi: 10.1002/ajmg.c.31358. PMID: 23613427
Lapunzina P
Am J Med Genet C Semin Med Genet 2005 Aug 15;137C(1):53-71. doi: 10.1002/ajmg.c.30064. PMID: 16010678
Fahmy J, Kaminsky CK, Parisi MT
Pediatr Radiol 1998 Mar;28(3):179-82. doi: 10.1007/s002470050326. PMID: 9561541
Clericuzio CL
Med Pediatr Oncol 1993;21(3):182-7. doi: 10.1002/mpo.2950210306. PMID: 8383278

Diagnosis

Ferianec V, Bartova M
J Matern Fetal Neonatal Med 2014 Oct;27(15):1607-9. Epub 2013 Dec 9 doi: 10.3109/14767058.2013.864633. PMID: 24215131
Alessandri JL, Cuillier F, Ramful D, Ernould S, Robin S, de Napoli-Cocci S, Rivière JP, Rossignol S
Am J Med Genet A 2008 Oct 1;146A(19):2532-7. doi: 10.1002/ajmg.a.32391. PMID: 18780370
Giurgea I, Bellanné-Chantelot C, Ribeiro M, Hubert L, Sempoux C, Robert JJ, Blankenstein O, Hussain K, Brunelle F, Nihoul-Fékété C, Rahier J, Jaubert F, de Lonlay P
Horm Res 2006;66(6):289-96. Epub 2006 Sep 26 doi: 10.1159/000095938. PMID: 17003566
Piccione M, Cecconi M, Giuffrè M, Lo Curto M, Malacarne M, Piro E, Riccio A, Corsello G
Am J Med Genet A 2005 Dec 1;139A(2):131-5. doi: 10.1002/ajmg.a.30994. PMID: 16278893
Li M, Shuman C, Fei YL, Cutiongco E, Bender HA, Stevens C, Wilkins-Haug L, Day-Salvatore D, Yong SL, Geraghty MT, Squire J, Weksberg R
Am J Med Genet 2001 Aug 1;102(2):161-8. doi: 10.1002/1096-8628(20010801)102:2<161::aid-ajmg1453>3.0.co;2-o. PMID: 11477610

Prognosis

Ferianec V, Bartova M
J Matern Fetal Neonatal Med 2014 Oct;27(15):1607-9. Epub 2013 Dec 9 doi: 10.3109/14767058.2013.864633. PMID: 24215131
Alessandri JL, Cuillier F, Ramful D, Ernould S, Robin S, de Napoli-Cocci S, Rivière JP, Rossignol S
Am J Med Genet A 2008 Oct 1;146A(19):2532-7. doi: 10.1002/ajmg.a.32391. PMID: 18780370
Piccione M, Cecconi M, Giuffrè M, Lo Curto M, Malacarne M, Piro E, Riccio A, Corsello G
Am J Med Genet A 2005 Dec 1;139A(2):131-5. doi: 10.1002/ajmg.a.30994. PMID: 16278893
Henneveld HT, van Lingen RA, Hamel BC, Stolte-Dijkstra I, van Essen AJ
Am J Med Genet 1999 Oct 29;86(5):439-46. PMID: 10508986
Fahmy J, Kaminsky CK, Parisi MT
Pediatr Radiol 1998 Mar;28(3):179-82. doi: 10.1007/s002470050326. PMID: 9561541

Clinical prediction guides

Haas G, Cetin S, Messmer M, Chane-Woon-Ming B, Terenzi O, Chicher J, Kuhn L, Hammann P, Pfeffer S
Nucleic Acids Res 2016 Apr 7;44(6):2873-87. Epub 2016 Jan 24 doi: 10.1093/nar/gkw040. PMID: 26809675Free PMC Article
Astuti D, Morris MR, Cooper WN, Staals RH, Wake NC, Fews GA, Gill H, Gentle D, Shuib S, Ricketts CJ, Cole T, van Essen AJ, van Lingen RA, Neri G, Opitz JM, Rump P, Stolte-Dijkstra I, Müller F, Pruijn GJ, Latif F, Maher ER
Nat Genet 2012 Feb 5;44(3):277-84. doi: 10.1038/ng.1071. PMID: 22306653
Giurgea I, Bellanné-Chantelot C, Ribeiro M, Hubert L, Sempoux C, Robert JJ, Blankenstein O, Hussain K, Brunelle F, Nihoul-Fékété C, Rahier J, Jaubert F, de Lonlay P
Horm Res 2006;66(6):289-96. Epub 2006 Sep 26 doi: 10.1159/000095938. PMID: 17003566
Henneveld HT, van Lingen RA, Hamel BC, Stolte-Dijkstra I, van Essen AJ
Am J Med Genet 1999 Oct 29;86(5):439-46. PMID: 10508986
Weksberg R, Squire JA
Med Pediatr Oncol 1996 Nov;27(5):462-9. doi: 10.1002/(SICI)1096-911X(199611)27:5<462::AID-MPO13>3.0.CO;2-C. PMID: 8827075

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