A novel pathogenic NFIX variant in a Malan syndrome patient associated with hindbrain overcrowding

Tabata, Kenshiro; Iida, Aritoshi; Takeshita, Eri; Nakagawa, Eiji; Sato, Noriko; Sasaki, Masayuki; Inoue, Ken; Goto, Yu‐ichi

doi:10.1016/j.jns.2020.116758

Cited by 3 publications

(1 citation statement)

References 10 publications

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“…Malan syndrome, also known as Sotos-like syndrome, is an overgrowth syndrome that was first described in 2010,3 and fewer than 100 cases have been reported in the literature 4–6. It is a multisystemic disease characterised by overgrowth, macrocephaly, developmental delay, epilepsy, dysmorphic facies and musculoskeletal abnormalities (figure 1).…”

Section: Introductionmentioning

confidence: 99%

Early diagnosis of Malan syndrome in an infant presenting with macrocephaly

et al. 2022

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We present an infant with persistent macrocephaly and developmental delay. There is a wide range of differential diagnoses for this presentation, including many rare genetic conditions. Here, a diagnosis of Malan syndrome was made—a rare overgrowth syndrome caused by haploinsufficiency ofNFIXand features affecting the neurological and musculoskeletal systems. Improvements in genomic medicine technologies and clinical services have revolutionised the way clinicians diagnose rare diseases. We highlight the importance of early genetic testing, particularly if there are red flag features such as developmental delay, and the need for a coordinated strategy to improve the management of rare diseases like Malan syndrome.

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Section: Introductionmentioning

confidence: 99%

Early diagnosis of Malan syndrome in an infant presenting with macrocephaly

et al. 2022

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Epilepsy and overgrowth–intellectual disability syndromes: a patient organization perspective on collaborating to accelerate pathways to treatment

Grens,

Church,

Diehl

et al. 2024

Therapeutic Advances in Rare Disease

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Overgrowth–intellectual disability (OGID) syndromes are a collection of rare genetic disorders with overlapping clinical profiles. In addition to the cardinal features of general overgrowth (height and/or head circumference at least two standard deviations above the mean) and some degree of intellectual disability, the OGID syndromes are often associated with neurological anomalies including seizures. In an effort to advance research in directions that will generate meaningful treatments for people with OGID syndromes, a new collaborative partnership called the Overgrowth Syndromes Alliance (OSA) formed in 2023. By taking a phenotype-first approach, OSA aims to unite research and patient communities traditionally siloed by genetic disorder. OSA has galvanized OGID patient organizations around shared interests and developed a research roadmap to identify and address our community’s greatest unmet needs. Here, we describe the literature regarding seizures among those with overgrowth syndromes and present the OSA Research Roadmap. This patient-driven guide outlines the milestones essential to reaching the outcome of effective treatments for OGID syndromes and offers resources for reaching those milestones.

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A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report

Macchiaiolo

Panfili

Vecchio

et al. 2022

Orphanet J Rare Dis

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Background Malan syndrome (MALNS) is a recently described ultrarare syndrome lacking guidelines for diagnosis, management and monitoring of evolutive complications. Less than 90 patients are reported in the literature and limited clinical information are available to assure a proper health surveillance. Results A multidisciplinary team with high expertise in MALNS has been launched at the “Ospedale Pediatrico Bambino Gesù”, Rome, Italy. Sixteen Italian MALNS individuals with molecular confirmed clinical diagnosis of MALNS were enrolled in the program. For all patients, 1-year surveillance in a dedicated outpatient Clinic was attained. The expert panel group enrolled 16 patients and performed a deep phenotyping analysis directed to clinically profiling the disorder and performing critical revision of previously reported individuals. Some evolutive complications were also assessed. Previously unappreciated features (e.g., high risk of bone fractures in childhood, neurological/neurovegetative symptoms, noise sensitivity and Chiari malformation type 1) requiring active surveillance were identified. A second case of neoplasm was recorded. No major cardiovascular anomalies were noticed. An accurate clinical description of 9 new MALNS cases was provided. Conclusions Deep phenotyping has provided a more accurate characterization of the main clinical features of MALNS and allows broadening the spectrum of disease. A minimal dataset of clinical evaluations and follow-up timeline has been proposed for proper management of patients affected by this ultrarare disorder.

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A novel pathogenic NFIX variant in a Malan syndrome patient associated with hindbrain overcrowding

Cited by 3 publications

References 10 publications

Early diagnosis of Malan syndrome in an infant presenting with macrocephaly

Early diagnosis of Malan syndrome in an infant presenting with macrocephaly

Epilepsy and overgrowth–intellectual disability syndromes: a patient organization perspective on collaborating to accelerate pathways to treatment

A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report

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