ArticleOrphanet journal of rare diseases2022
A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report.
Article in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 29 citations in OpenAlex.
- NovelFrontiers in pediatrics · 2026Article
- Peripersonal space and interpersonal distance as windows onto multisensory body representation in adolescents with overgrowth syndromes.Frontiers in human neuroscience · 2026Article
- A Case of Malan Syndrome With Pulmonary Artery Dilatation due to a Novel Frameshift Variant in Exon 2 of theCase reports in genetics · 2026Article
- [Nuclear Factor I-X Regulates Molecular Pathways Related to Craniofacial Development Through Phase Separation].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2025Article
- Overgrowth-intellectual disability disorders: progress in biology, patient advocacy and innovative therapies.Disease models & mechanisms · 2025Review
- Profiling Cognitive and Social Functioning in a Small Cohort with Malan Syndrome.Children (Basel, Switzerland) · 2025Article
- Mechanistic insights intoFrontiers in genetics · 2025Article
- A Patient Case of Malan Syndrome Involving 19p13.2 Deletion ofJournal of clinical medicine · 2024Article
- Natural history in Malan syndrome: survey of 28 adults and literature review.Orphanet journal of rare diseases · 2024Review
- Macrocephaly and Finger Changes: A Narrative Review.International journal of molecular sciences · 2024Review
- Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencing.American journal of medical genetics. Part A · 2024Article
- Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates.NPJ genomic medicine · 2024Article
- Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder.Research square · 2023Article
- Behavioral profiling in children and adolescents with Malan syndrome.Frontiers in child and adolescent psychiatry · 2023Article
- Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome.Journal of clinical medicine · 2022Article
- Epilepsy and overgrowth-intellectual disability syndromes: a patient organization perspective on collaborating to accelerate pathways to treatment.Therapeutic advances in rare diseaseReview
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Authors and funding
15 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMalan 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.
resultsA 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.
conclusionsDeep 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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