ArticleHuman mutation2018
Further delineation of Malan syndrome.
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Article in Human mutation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
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44citing papers in PubMed
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44 citing papers in PubMed, 76 citations in OpenAlex.
- Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly.Clinical genetics · 2026Article
- From Suspected Congenital Cytomegalovirus Infection to Malan Syndrome: Delayed Genetic Diagnosis Due to Diagnostic Anchoring.Diseases (Basel, Switzerland) · 2026Article
- Leukocytes Transcriptome Analysis of Genes Associated with Epilepsy Duration and Age of Onset.Molecular neurobiology · 2026Article
- NovelFrontiers in pediatrics · 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
- Structural basis of Nuclear Factor 1-X DNA recognition provides prototypic insight into the NFI family.Nature communications · 2025Article
- Overgrowth-intellectual disability disorders: progress in biology, patient advocacy and innovative therapies.Disease models & mechanisms · 2025Review
- Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disorders.Developmental medicine and child neurology · 2025Article
- 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
- Management of an older Marshall-Smith syndrome patient: a review of literature of MSS and craniosynostosis.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Review
- Natural history in Malan syndrome: survey of 28 adults and literature review.Orphanet journal of rare diseases · 2024Review
- Article
- Deciphering the etiology of undiagnosed ocular anomalies along with systemic alterations in pediatric patients through whole exome sequencing.Scientific reports · 2024Article
- 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
- Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome.BMC medical genomics · 2024Article
- Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?Human genetics · 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
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Authors and funding
54 authors at 20 institutions in 14 countries.
Manuela PrioloUnità Operativa di Genetica Medica, Grande Ospedale Metropolitano Bianchi-Melacrino-Morelli, Reggio Calabria, Italy.
Denny SchanzeInstitute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
Katrin Tatton-BrownDivision of Genetics and Epidemiology, Institute of Cancer Research, London and South West Thames Regional Genetics Service, St. George's University Hospitals NHS Foundation Trust, London, UK.
Paul A MulderAutism Team Northern-Netherlands, Jonx Department of Youth Mental Health, Lentis Psychiatric Institute, Groningen, The Netherlands.
Jair TenorioInstitute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, Universidad Autónoma de Madrid, and CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.
Kreepa KooblallAcademic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
Inés Hernández AceroGenetics Unit, Hospital Universitario Central de Asturias, Oviedo, Spain.
Fowzan S AlkurayaSaudi Human Genome Project, King Abdulaziz City for Science and Technology, and Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Pedro AriasInstitute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, Universidad Autónoma de Madrid, and CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.
Laura BernardiniCytogenetics Unit, Casa Sollievo della Sofferenza Foundation, San Giovanni Rotondo, Italy.
Emilia K BijlsmaDepartment of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
Trevor ColeDepartment of Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Christine CoubesDépartement de Génétique Médicale, Hôpital Arnaud de Villeneuve, CHRU Montpellier, Montpellier, France.
Irene DapiaInstitute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, Universidad Autónoma de Madrid, and CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.
Sally DaviesInstitute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
Nataliya Di DonatoInstitute for Clinical Genetics, TU Dresden, Dresden, Germany.
Nursel H ElciogluDepartment of Pediatric Genetics, Marmara University Medical School, Istanbul, and Eastern Mediterranean University, Mersin, Turkey.
Jill A FahrnerMcKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Alison FosterInstitute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
Noelia García GonzálezUnit Hospital Universitario Central de Asturias, Oviedo, Spain.
Ilka HuberSørland Hospital, Kristiansand, Norway.
Maria IasconeLaboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy.
Ann-Sophie KaiserInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Arveen KamathInstitute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
Jan LiebeltSouth Australian Clinical Genetics Services, SA Pathology, North Adelaide, Australia.
Sally Ann LynchUCD Academic Centre on Rare Diseases, School of Medicine and Medical Sciences, University College Dublin, and Clinical Genetics, Temple Street Children's University Hospital, Dublin, Ireland.
Saskia M MaasDepartment of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Corrado MammìUnità Operativa di Genetica Medica, Grande Ospedale Metropolitano Bianchi-Melacrino-Morelli, Reggio Calabria, Italy.
Inge B MathijssenDepartment of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Shane McKeeBelfast HSC Trust, Northern Ireland Regional Genetics Service, Belfast, Northern Ireland.
Leonie A MenkeDepartment of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Ghayda M MirzaaCenter for Integrative Brain Research, Seattle Children's Research Institute, and Department of Human Genetics, University of Washington, Seattle, Washington.
Tara MontgomeryNewcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne, UK.
Dorothee NeubauerInstitute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
Thomas E NeumannMitteldeutscher Praxisverbund Humangenetik, Halle, Germany.
Letizia PintomalliUnità Operativa di Genetica Medica, Grande Ospedale Metropolitano Bianchi-Melacrino-Morelli, Reggio Calabria, Italy.
Maria Antonietta PisantiMedical Genetic and Laboratory Unit, "Antonio Cardarelli" Hospital, Naples, Italy.
Astrid S PlompDepartment of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Sue PriceDepartment of Clinical Genetics, Northampton General Hospital NHS Trust, Northampton, UK.
Claire SalterWessex Clinical Genetics Service, Princess Ann Hospital, Southampton, UK.
Fernando Santos-SimarroInstitute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, Universidad Autónoma de Madrid, and CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.
Pierre SardaDépartement de Génétique Médicale, Hôpital Arnaud de Villeneuve, CHRU Montpellier, Montpellier, France.
Mabel SegoviaCENAGEM, Centro Nacional de Genética, Buenos Aires, Argentina.
Charles Shaw-SmithRoyal Devon and Exeter NHS Foundation Trust, Exeter, UK.
Sarah SmithsonUniversity Hospitals Bristol NHS Trust, Bristol, UK.
Mohnish SuriNottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK.
Rita Maria ValdezGenetics Unit, Hospital Militar Central "Cirujano Mayor Dr. Cosme Argerich,", Buenos Aires, Argentina.
Arie Van HaeringenDepartment of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
Johanna M Van HagenDepartment of Clinical Genetics, VU University Medical Centre, Amsterdam, The Netherlands.
Marcela ZollinoDepartment of Laboratory Medicine, Institute of Medical Genetics, Catholic University, Rome, Italy.
Pablo LapunzinaInstitute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, Universidad Autónoma de Madrid, and CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.
Rajesh V ThakkerAcademic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
Martin ZenkerInstitute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
Raoul C HennekamDepartment of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.ORCID 0000-0002-6745-1522
Amsterdam UMC Location University of Amsterdam · NLHospital Universitario La Paz · ESAzienda ospedaliera "Bianchi-Melacrino-Morelli" · ITUniversity Hospital Magdeburg · DEHôpital Arnaud de Villeneuve · FRHospital Universitario Central de Asturias · ESJohn Radcliffe Hospital · GBLeiden University · NLUniversity Hospital of Wales · GBAmsterdam UMC Location Vrije Universiteit Amsterdam · NLArgerich Hospital · ARBelfast Health and Social Care Trust · GBBirmingham Women’s and Children’s NHS Foundation Trust · GBCasa Sollievo della Sofferenza · ITCatholic University of America · USCenter for Systems Biology Dresden · DEEastern Mediterranean University · CYHeidelberg University · DEInstitute of Cancer Research · GBJohns Hopkins University · US
Funding
Intellectual and Developmental Disabilities Research CenterU54HD083091 · NICHD · UNIVERSITY OF WASHINGTON · PI GARDEN, GWENN A · 2014 to 2019
$7.9MGenes and pathways underlying brain overgrowth and focal cortical malformationsK08NS092898 · NINDS · SEATTLE CHILDREN'S HOSPITAL · PI MIRZAA, GHAYDA · 2015 to 2019
$930kMedical Research Council G1000467Medical Research Council G9825289Medical Research Council MC_PC_16018NICHD NIH HHS U54 HD083091NINDS NIH HHS K08 NS092898
Abstract
Malan syndrome is an overgrowth disorder described in a limited number of individuals. We aim to delineate the entity by studying a large group of affected individuals. We gathered data on 45 affected individuals with a molecularly confirmed diagnosis through an international collaboration and compared data to the 35 previously reported individuals. Results indicate that height is > 2 SDS in infancy and childhood but in only half of affected adults. Cardinal facial characteristics include long, triangular face, macrocephaly, prominent forehead, everted lower lip, and prominent chin. Intellectual disability is universally present, behaviorally anxiety is characteristic. Malan syndrome is caused by deletions or point mutations of NFIX clustered mostly in exon 2. There is no genotype-phenotype correlation except for an increased risk for epilepsy with 19p13.2 microdeletions. Variants arose de novo, except in one family in which mother was mosaic. Variants causing Malan and Marshall-Smith syndrome can be discerned by differences in the site of stop codon formation. We conclude that Malan syndrome has a well recognizable phenotype that usually can be discerned easily from Marshall-Smith syndrome but rarely there is some overlap. Differentiation from Sotos and Weaver syndrome can be made by clinical evaluation only.
Indexed as
Abnormalities, MultipleAdolescentAdultBone Diseases, DevelopmentalChildChild, PreschoolChromosome DeletionCongenital HypothyroidismCraniofacial AbnormalitiesDevelopmental DisabilitiesExonsFemaleHand Deformities, CongenitalHumansIntellectual DisabilityMaleNFI Transcription FactorsNFIX protein, humanMalan syndromeMarshall-Smith syndromeNFIXphenotypephenotype-genotypeSotos syndromeWeaver syndrome
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