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Perlman syndrome
Perlman syndrome
Perlman syndrome
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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

[edit]

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

[edit]

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

[edit]

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

[edit]

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

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References

[edit]
[edit]
Revisions and contributorsEdit on WikipediaRead on Wikipedia

Perlman syndrome

View on Grokipedia
from Grokipedia
Perlman syndrome is a rare autosomal recessive congenital overgrowth disorder characterized by prenatal and postnatal macrosomia, , distinctive facial dysmorphisms, renal hamartomas or nephroblastomatosis, visceromegaly, and a high predisposition to , often resulting in severe neonatal complications and high mortality within the first year of life. Affected individuals typically present with fetal , low muscle tone (), macrocephaly, and abnormal facial features including an everted V-shaped upper lip, deep-set eyes, , and a prominent with a flat . Renal involvement is prominent, with bilateral hamartomatous tumors or nephroblastomatosis occurring in nearly all cases, alongside frequent , in males (affecting over 75%), and occasional or . Neurodevelopmental issues are common among survivors, including , developmental delay, seizures, and brain anomalies such as or cerebral cysts. Additional features may involve a bell-shaped chest or cardiac defects, contributing to multisystem involvement. The syndrome arises from biallelic pathogenic variants in the DIS3L2 gene located on chromosome 2q37.1, which encodes a involved in processing and degradation; mutations disrupt this function, leading to the overgrowth . Inheritance follows an autosomal recessive pattern, with a 25% recurrence risk in offspring of carrier parents, necessitating for affected families. First reported in 1970 and more fully described in 1973, the molecular basis was elucidated in 2012, confirming its distinction from similar overgrowth syndromes like Beckwith-Wiedemann syndrome. Perlman syndrome has an estimated prevalence of less than 1 in 1,000,000 individuals, with more than 30 cases (fewer than 50) reported worldwide as of 2025, primarily in consanguineous families. Diagnosis relies on clinical presentation, imaging for renal anomalies, and to confirm DIS3L2 variants; prenatal detection via for macrosomia and is possible. Management is supportive and multidisciplinary, focusing on respiratory support for neonatal distress, surgical intervention for tumors or hernias, and regular abdominal screening every three months from birth until age 7 to monitor for , which develops in approximately 64-67% of survivors (often bilateral and before age 2). Prognosis remains poor, with most infants succumbing in the neonatal period due to renal failure, respiratory issues, or infections, though rare cases have survived into childhood with intensive care.

Overview

Definition and Characteristics

Perlman syndrome is a rare autosomal recessive congenital overgrowth disorder characterized by fetal macrosomia, , nephromegaly, renal , dysmorphic facial features, and a high predisposition to and nephroblastomatosis. Key characteristics include neonatal macrosomia with birth weights typically exceeding 4 kg, visceromegaly especially affecting the kidneys, , and a neonatal over 50%, primarily due to renal failure or respiratory complications. The disorder is caused by biallelic mutations in the DIS3L2 gene. Unlike related overgrowth syndromes such as Beckwith-Wiedemann syndrome, which arises from mosaic imprinting defects at 11p15 and features or , or Simpson-Golabi-Behmel syndrome, an X-linked condition due to GPC3 mutations with prominent skeletal anomalies and , Perlman syndrome is distinguished by its autosomal recessive inheritance, specific facial dysmorphisms like an inverted V-shaped upper lip and deep-set eyes, and its unique high risk for renal tumors without those additional malformations. The syndrome was first described in 1970 by Liban and Kozenitzky in affected siblings and further detailed by Perlman et al. in 1973, with formal naming occurring in 1986.

History and Discovery

Perlman syndrome was first reported in 1970 by Liban and Kozenitzky, who described two siblings from a consanguineous Jewish-Yemenite family exhibiting renal hamartomas, nephroblastomatosis, and fetal , marking the initial recognition of this constellation of features. In 1973, Perlman et al. expanded on this by detailing five affected offspring from the same family, emphasizing the autosomal recessive inheritance pattern, , neonatal macrosomia, and distinctive facial dysmorphisms, which further characterized the condition. The syndrome was formally delineated as a distinct entity in 1986 by Perlman et al., based on observations from 10 affected individuals across three families, including documentation of a high risk for development, which highlighted its neoplastic predisposition and differentiated it from other overgrowth disorders. Early nomenclature referred to it as "renal hamartomas, nephroblastomatosis, and fetal gigantism," reflecting the prominent renal and growth abnormalities, before evolving to "Perlman syndrome" in recognition of the lead researcher's contributions. A major genetic breakthrough occurred in 2012 when Astuti et al. identified biallelic mutations in the DIS3L2 gene as the underlying cause, linking the syndrome to disruptions in processing and providing a molecular basis for its features. Post-2012 research has revealed variability, including attenuated phenotypes in siblings with milder presentations lacking full neonatal lethality, as reported in a 2025 of three affected siblings who survived into childhood with an attenuated including macrosomia and variable tumor development (one developed ). Early epidemiological data were limited, with fewer than 30 cases documented worldwide by , underscoring diagnostic challenges and underreporting due to high neonatal mortality. As of 2025, over 30 cases have been clinically described, with around 14 molecularly confirmed via DIS3L2 variants, though the total remains under 100 globally, reflecting ongoing gaps in recognition outside consanguineous populations.

Clinical Features

Prenatal Manifestations

Perlman syndrome can be detected as early as gestational week 18 through prenatal , which may reveal , fetal , fetal macrosomia defined as weight exceeding the 90th percentile for , , and nephromegaly. These findings contribute to early suspicion in overgrowth syndromes, with often being the initial indicator due to renal anomalies. Associated prenatal complications include , cardiac anomalies such as ventricular septal defects, and renal , the latter of which can be visualized on fetal MRI as enlarged kidneys with cystic lesions. Fetal MRI provides detailed assessment of renal structure, distinguishing dysplastic changes from other cystic diseases. Histologic examination in affected pregnancies often reveals nephroblastomatosis, a precursor to , along with hamartomatous lesions in the kidneys, typically identified through biopsy or postmortem analysis. Given its autosomal recessive inheritance, Perlman syndrome carries a 25% recurrence risk in siblings, which underscores the importance of prenatal screening via and in families with a history of the condition. Studies from the have linked biallelic variants in the DIS3L2 gene to altered fetal growth patterns in Perlman syndrome, with attenuated cases exhibiting milder and less severe macrosomia compared to classic presentations.

Postnatal Signs and Symptoms

Infants with Perlman syndrome typically present at birth with macrosomia, severe generalized , and visceromegaly, including nephromegaly and , which contribute to , respiratory distress due to diaphragmatic elevation, and feeding difficulties often necessitating nasogastric support. Distinctive dysmorphic facial features include a prominent , deep-set eyes, broad and flat , micrognathia, , and an inverted V-shaped upper lip with an open mouth appearance. These neonatal challenges frequently lead to complications such as from and recurrent apnea or . Renal involvement is a hallmark, characterized by bilateral enlarged and dysplastic kidneys that are highly susceptible to early failure, often presenting with or in the neonatal period. Among survivors of the neonatal phase, nephroblastomatosis is common and progresses to in approximately 64% of cases, typically bilateral and diagnosed before age 2 years. Additional features in affected infants include developmental delay, , cryptorchidism in males (affecting over 75%), and endocrine disturbances such as persistent requiring intervention. In rare attenuated cases, such as those reported in three siblings with biallelic DIS3L2 variants, postnatal manifestations are milder, featuring , milder dysmorphic features like prominent forehead and deep-set eyes, and survival beyond infancy without severe visceromegaly or immediate renal failure, though developmental delays, behavioral issues, and tumor risk persist. Overall symptom severity is profound, with over 50% neonatal mortality attributed to renal failure, , or ; survivors face a high incidence of neurodevelopmental deficits and require lifelong multidisciplinary monitoring for and .

Genetics and Pathophysiology

Genetic Cause

Perlman syndrome is an autosomal recessive disorder caused by biallelic pathogenic variants in the DIS3L2 gene, located on chromosome 2q37.1. This inheritance pattern requires both alleles to be affected, typically through inheritance of one mutated copy from each parent, who are carriers. The spectrum in DIS3L2 primarily consists of loss-of-function variants, including nonsense, frameshift, and splice-site s that disrupt the gene's coding sequence and lead to premature protein truncation or instability. Homozygous deletions have also been reported, such as a homozygous 9 deletion due to non-allelic between LINE-1 elements in a Japanese . These variants abolish or severely impair the function of the DIS3L2 protein, a cytoplasmic that plays a key role in RNA processing and degradation by catalyzing the exonucleolytic breakdown of single-stranded molecules. Heterozygous germline variants in DIS3L2 are associated with an increased risk of isolated , often through a second somatic hit in the tumor, but do not typically cause the full Perlman syndrome . In contrast, biallelic loss-of-function variants result in the complete syndrome, characterized by overgrowth and multiorgan involvement. The carrier frequency of DIS3L2 pathogenic variants is rare in the general population, with no identified population-specific hotspots, though has been noted in several affected families, elevating the risk of biallelic inheritance. Recent reports have expanded the allelic spectrum to include hypomorphic variants, such as certain missense mutations that retain partial protein function, leading to attenuated phenotypes with milder overgrowth, developmental delay, and reduced lethality compared to classic cases. For instance, compound heterozygous variants including a (c.127C>T, p.Arg43Ter) and a missense variant (c.2381G>A, p.Arg794His) have been identified in siblings presenting with macrosomia, , dysmorphic features, and susceptibility but improved survival beyond infancy.

Molecular Mechanisms

DIS3L2 functions as a 3'-5' exoribonuclease that specifically degrades uridylated precursors of microRNAs (miRNAs) and messenger RNAs (mRNAs), thereby regulating key processes such as and differentiation. This RNA surveillance mechanism ensures the timely decay of non-coding RNAs (ncRNAs), including those involved in ribosomal and processing, preventing their accumulation and maintaining cellular . In the context of Perlman syndrome, biallelic loss-of-function mutations in DIS3L2 disrupt this exonucleolytic activity, leading to the buildup of aberrant uridylated transcripts. Pathogenic mutations in DIS3L2 result in the accumulation of miRNA precursors, which dysregulates the Akt signaling pathway and impairs cell survival, contributing to the syndrome's developmental anomalies. A 2025 study in models demonstrated that dis3l2 depletion downregulates Akt-GSK3β signaling, inducing in neural progenitors and reducing expression of specifier genes like foxd3 and . Additionally, DIS3L2 loss impairs (ER)-targeted mRNA translation by allowing accumulation of truncated, uridylated 7SL —a component of the —leading to stalled translation of secreted proteins and ER calcium leakage. This disruption elevates cytosolic calcium levels, as shown in embryonic s where translation efficiency of ER-associated mRNAs dropped by at least twofold, exacerbating defects in differentiation and organ development. The overgrowth phenotype in Perlman syndrome arises from dysregulated fetal growth due to altered differentiation and unchecked proliferation of progenitors. DIS3L2 mutations upregulate growth factors like IGF2 in these progenitors, promoting excessive cell division and tissue enlargement, while also increasing predisposition to through the accumulation of multifocal nephrogenic rests—benign embryonal kidney foci that persist postnatally and serve as precursors to . In and mouse models, Dis3l2 knockout recapitulates these features: null mutants exhibit 14% larger wings from increased cell numbers, renal anomalies like , perinatal lethality, and elevated tumor susceptibility via Igf2 overexpression, closely mirroring human Perlman phenotypes. A 2024 review of ribonucleases in Mendelian diseases highlights how these models reveal conserved RNA degradation defects driving overgrowth and oncogenesis. Recent advances include a evolutionary showing that DIS3L2 variants exert significant purifying selection on the human due to their association with high-penetrance childhood cancers like , with constrained loss-of-function variants reducing transmission rates. These insights underscore DIS3L2's role in surveillance pathways but indicate no targeted therapies are available yet, emphasizing the need for further research into uridylation-dependent decay mechanisms.

Diagnosis

Clinical Evaluation

Initial suspicion of Perlman syndrome often arises from a family history of or affected siblings, given its autosomal recessive inheritance pattern, combined with signs of prenatal or postnatal overgrowth such as macrosomia and nephromegaly. In neonates, this suspicion is heightened by the presence of , fetal , or abdominal distention noted during prenatal or at birth. Physical examination focuses on identifying dysmorphic features, including deep-set eyes, an inverted V-shaped upper lip, prominent forehead, broad flat , and , alongside and visceromegaly. Organomegaly, particularly nephromegaly and , is assessed through abdominal and confirmed via renal or MRI to evaluate for cysts, , or nephroblastomatosis. Laboratory tests include evaluation of renal function, where elevated levels may indicate early renal impairment, and screening for due to from pancreatic islet cell hypertrophy. If tumors are suspected based on imaging, histologic examination of a can confirm nephroblastomatosis, a precursor lesion to . Differential diagnosis requires ruling out similar overgrowth syndromes, such as Beckwith-Wiedemann syndrome through studies of the 11p15 region and Simpson-Golabi-Behmel syndrome via GPC3 testing, to distinguish Perlman syndrome's unique combination of severe neonatal features and high mortality risk. Confirmatory may follow initial clinical assessment but is detailed separately. A multidisciplinary approach is essential for early evaluation, involving geneticists for syndrome assessment, neonatologists for immediate postnatal care, and oncologists for monitoring renal tumor risks, given the syndrome's high neonatal mortality from respiratory distress or renal failure.

Genetic Testing

Genetic testing for Perlman syndrome primarily involves molecular analysis of the DIS3L2 on 2q37, as biallelic pathogenic variants in this gene cause the autosomal recessive disorder. Recommended approaches include targeted next-generation sequencing (NGS) of the DIS3L2 coding s and adjacent intronic regions, which detects single nucleotide variants, small insertions/deletions, and larger structural changes with high sensitivity (>99% for variants under 15 bp). This is often complemented by deletion/duplication analysis at the single- level to identify copy number variants, such as the homozygous 6 or 9 deletions reported in multiple families, though 19 may require alternative methods due to technical limitations. For atypical presentations or when initial targeted testing is negative, whole-exome sequencing (WES) or multigene panels focused on overgrowth syndromes are advised to capture rare or novel variants. Diagnosis is confirmed by identifying biallelic pathogenic or likely pathogenic variants, typically loss-of-function types such as (e.g., c.127C>T p.Arg43Ter), frameshift, or large deletions that disrupt DIS3L2 function. These variants are classified according to American College of and (ACMG) guidelines, incorporating evidence like null variant prediction (PVS1), absence in population databases (PM2), and computational predictions of deleterious effects (PP3). Compound heterozygous combinations, such as a variant paired with a missense change (e.g., c.2381G>A p.Arg794His), have been documented in cases with variable expressivity. Prenatal testing is available for at-risk pregnancies where parental carrier status is known, utilizing (typically after 15 weeks ) or (CVS, between 10-13 weeks) to obtain fetal DNA for targeted DIS3L2 analysis. should emphasize the 25% recurrence risk for affected offspring in carrier couples, alongside discussions of prenatal findings like or nephromegaly that may prompt testing. Challenges in testing arise from the rarity of Perlman syndrome and the gene's absence from many standard developmental delay or renal disorder panels, necessitating clinician awareness to order specific DIS3L2 analysis. Rare variants, particularly missense or potential splice-site changes (e.g., c.367-2A>G or c.2394+5G>A previously linked to attenuated phenotypes), may require functional assays like sequencing to confirm splicing disruption or loss of protein function, as standard NGS might miss subtle impacts. Recent reports from 2025 on families with milder presentations underscore the importance of enhanced splice-site detection to avoid underdiagnosis in non-classic cases. Such testing is widely available through clinical laboratories like , which offers comprehensive DIS3L2 panels with rapid turnaround (average 14 days), and academic centers specializing in rare genetic disorders. Post-test counseling is essential, addressing diagnostic implications, family planning options including , and surveillance for associated risks like in confirmed cases.

Management and Prognosis

Treatment Strategies

Treatment of Perlman syndrome is primarily supportive and symptomatic, as no curative or gene-specific therapies currently exist. Neonatal care is critical due to the high risk of early complications, focusing on respiratory support through for distress or insufficiency, such as dialysis for acute , and nutritional interventions including nasogastric feeding to address hypotonia-related swallowing difficulties and macrosomia-associated needs. Tumor surveillance is a cornerstone of management given the elevated risk of , with guidelines recommending abdominal or MRI every three months from birth until age seven to enable early detection of renal masses. If tumors are identified, prompt is performed, often followed by adjuvant chemotherapy tailored to the stage and , in line with standard protocols. Symptom management targets specific manifestations, including hormone therapy such as or for hyperinsulinemic to stabilize blood glucose levels, physical and to mitigate developmental delays from , and surgical interventions for structural anomalies like repair or correction of cardiac defects. A multidisciplinary team approach is essential, involving neonatologists for initial stabilization, nephrologists for ongoing renal monitoring, oncologists for tumor risk assessment and treatment, neurologists for evaluation, and genetic counselors to guide and recurrence risk discussions. Recent research highlights the role of the DIS3L2 gene in processing and miRNA regulation. Enhanced supportive care has contributed to improved survival in attenuated cases, as reported in studies of longer-surviving patients into childhood.

Long-Term Outcomes

Perlman syndrome carries a high risk of early mortality, with over 50% of affected individuals succumbing during the neonatal period, primarily due to renal dysplasia or . Overall infancy mortality approaches 80%, as fewer than 20% survive beyond the first year without intensive supportive interventions. Among the minority who survive infancy, long-term complications are prevalent, including a greater than 60% incidence of , often necessitating and . Intellectual disability affects nearly all survivors, with variable severity, accompanied by motor delays and developmental challenges that persist into childhood. Recent reports highlight attenuated presentations in some cases, such as a 2025 description of three siblings with biallelic DIS3L2 variants who survived to ages 2, 9, and 10 years, exhibiting milder features like improved renal function, , and developmental delays but with only one developing . These cases suggest a spectrum of severity, with lower tumor risk and no immediate renal failure in affected siblings. for long-term survivors involves lifelong renal monitoring to address potential progression to end-stage renal disease, which may require transplantation, alongside psychological and educational support for intellectual and behavioral issues. Prognostic factors include early and rigorous tumor , which have contributed to improved survival rates through enhanced supportive care in the past decade; however, no curative treatments exist.

Epidemiology

Incidence and Prevalence

Perlman syndrome is an extremely rare autosomal recessive overgrowth disorder, with an estimated of less than 1 in 1,000,000 individuals. The incidence is similarly low, reported as fewer than 1 in 1,000,000 live births, though exact figures are challenging to determine due to the condition's high lethality in the neonatal period, which precludes reliable prevalence tracking in surviving populations. As of 2008, fewer than 30 cases had been documented worldwide, primarily through clinical reports in . By 2025, the total number of reported cases has increased to more than 30, with registries such as Orphanet and indexing additional instances, many arising in consanguineous families due to the autosomal recessive inheritance pattern. Underreporting is likely significant, as the syndrome's severe prenatal manifestations—such as and fetal overgrowth—may result in undetected losses or terminations, while postnatal cases can be misdiagnosed as other overgrowth disorders like Beckwith-Wiedemann syndrome. Advances in since the identification of DIS3L2 variants in 2012 have facilitated more diagnoses, including milder attenuated forms. Cases are distributed sporadically across global populations, with reports from families of Middle Eastern (e.g., original Yemenite Jewish kindred in Israel), European (Italian, Dutch), South Asian (Pakistani), Japanese, and North American origins, but no identified high-prevalence regions or ethnic clusters. Between 2020 and 2025, the literature has documented approximately 10-15 additional cases, reflecting improved molecular recognition rather than a true rise in occurrence.

Demographic Patterns

Perlman syndrome exhibits a slight predominance, with a reported of 2 males to 1 female. As an autosomal recessive disorder, it shows no sex-linked effects. Cases are predominantly reported from regions with elevated rates of , including the —such as Yemenite Jewish families in —and , exemplified by Pakistani kindreds. Isolated cases have also been documented in , including Dutch and Albanian families. Parental consanguinity is a key , observed in multiple families, including the original description in a consanguineous Yemenite Jewish kindred and subsequent Pakistani reports, though non-consanguineous cases comprise a significant portion of the literature. No environmental triggers have been identified. Ethnic patterns lack evidence of founder effects across populations. Recent reports, such as a 2025 case series, highlight diverse ancestries and include attenuated phenotypes in non-consanguineous siblings, featuring milder overgrowth, developmental delays, and Wilms tumor predisposition without early lethality.

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