Wiedemann-Steiner syndrome

Wiedemann-Steiner syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long philtrum), developmental delay, and mild to moderate intellectual disability. It has a variable clinical phenotype with additional manifestations reported including muscular hypotonia, patent ductus arteriosus, small hands and feet, hypertrichosis on the back, behavioral difficulties, and seizures.



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Narrow down the case reports



Total: 15 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(52.1%)		 28815892
 Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A.
Enokizono T, Ohto T, Tanaka R, Tanaka M, Suzuki H, Sakai A, Imagawa K, Fukushima H, Iwabuti A, Fukushima T, Sumazaki R, Uehara T, Takenouchi T, Kosaki K.
Am J Med Genet A. 2017;173(10):2821-2825.
Wide nasal bridge Narrow palpebral fissure Preaxial polydactyly
KMT2A
Child Codon, Nonsense Contracture Facies Growth Disorders Histone-Lysine N-Methyltransferase Homo sapiens Intellectual Disability Male Microcephaly Myeloid-Lymphoid Leukemia Protein Polydactyly Syndrome
2
(48.2%)		 27777327
 Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.
Min Ko J, Cho JS, Yoo Y, Seo J, Choi M, Chae JH, Lee HR, Cho TJ.
J Child Neurol. 2017;32(2):237-242.
Self-mutilation Small hand
p|SUB|G|1168|D p|SUB|Q|1978|* rs1131691799 rs150800017 rs1555036394 rs1555036436 rs1555038115 rs1555039242 rs1555039343 rs1555039606 rs1555040480 rs1555046355 rs1555046404 rs1555046428 rs1555046615 rs1555047506 rs1555052879 rs1555053483 rs1555138529 rs781978013 rs782297546 rs868985556 rs886041896
Child Child, Preschool Congenital Dysplasia Of The Hip Congenital Hand Deformities Developmental Disabilities Face Females Forearm Histone-Lysine N-Methyltransferase Homo sapiens Hypertrichosis Male Mutation Myeloid-Lymphoid Leukemia Protein Syndrome
3
(39.0%)		 27320412
 Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.
Stellacci E, Onesimo R, Bruselles A, Pizzi S, Battaglia D, Leoni C, Zampino G, Tartaglia M.
Am J Med Genet A. 2016;170(9):2389-93.
Microcephaly
KMT2A
rs1555729045 rs1555730069 rs1555731093 rs1555732564 rs1555732987 rs1555734923 rs953781410
Amino Acid Sequence DNA Mutational Analysis Electroencephalography Facies Fluorescent in Situ Hybridization Genetic Association Studies Heterozygote Histone-Lysine N-Methyltransferase Homo sapiens Immunologic Deficiency Syndromes Infant Magnetic Resonance Imaging Male Missense Mutation Myeloid-Lymphoid Leukemia Protein Phenotype Syndrome
4
(38.2%)		 20803650
 Wiedemann-Steiner syndrome: three further cases.
Koenig R, Meinecke P, Kuechler A, Schafer D, Muller D.
Am J Med Genet A. 2010;152A(9):2372-5.
Hypertelorism Long philtrum Narrow palpebral fissure
Child Child, Preschool Congenital Foot Deformity Congenital Hand Deformities Face Females Homo sapiens Intellectual Disability Male Psychomotor Disorders
5
(31.0%)		 24886118
(4072606)
 De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.
Strom SP, Lozano R, Lee H, Dorrani N, Mann J, O'Lague PF, Mans N, Deignan JL, Vilain E, Nelson SF, Grody WW, Quintero-Rivera F.
BMC Med Genet. 2014;15:49.
Microphthalmia Syndactyly
KMT2A
c|SUB|T|4342|C;RS#:863224895 rs1131691799 rs150800017 rs1555036394 rs1555036436 rs1555038115 rs1555039242 rs1555039343 rs1555039606 rs1555040480 rs1555046355 rs1555046404 rs1555046428 rs1555046615 rs1555047506 rs1555052879 rs1555053483 rs1555138529 rs781978013 rs782297546 rs868985556 rs886041896
Child Computational Biology Developmental Disabilities Exome Facies Females High-Throughput Nucleotide Sequencing Histone-Lysine N-Methyltransferase Homo sapiens Infant Intellectual Disability Male Myeloid-Lymphoid Leukemia Protein Phenotype Syndrome
6
(30.8%)		 27759909
 Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.
Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, Wang L, Fan Y, Gu X, Yu Y.
Am J Med Genet A. 2017;173(2):510-514.
Wide nasal bridge Long eyelashes
KMT2A
rs1131691799 rs150800017 rs1555036394 rs1555036436 rs1555038115 rs1555039242 rs1555039343 rs1555039606 rs1555040480 rs1555046355 rs1555046404 rs1555046428 rs1555046615 rs1555047506 rs1555052879 rs1555053483 rs1555138529 rs781978013 rs782297546 rs868985556 rs886041896
Alleles Child, Preschool Facies Genetic Association Studies Genotype High-Throughput Nucleotide Sequencing Histone-Lysine N-Methyltransferase Homo sapiens Male Myeloid-Lymphoid Leukemia Protein Phenotype Quantitative Trait Loci Sequence Deletion Syndrome
6
(30.8%)		 25810209
 Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.
Miyake N, Tsurusaki Y, Koshimizu E, Okamoto N, Kosho T, Brown NJ, Tan TY, Yap PJ, Suzumura H, Tanaka T, Nagai T, Nakashima M, Saitsu H, Niikawa N, Matsumoto N.
Clin Genet. 2016;89(1):115-9.
Hypertelorism Thick eyebrow Narrow palpebral fissure
KDM6A KMT2A KMT2D
rs1131691799 rs150800017 rs1555035779 rs1555036394 rs1555036436 rs1555038115 rs1555038125 rs1555039242 rs1555039343 rs1555039606 rs1555040480 rs1555046355 rs1555046404 rs1555046428 rs1555046568 rs1555046615 rs1555047506 rs1555052879 rs1555053483 rs1555138529 rs781978013 rs782297546 rs868985556 rs886041896
Child Child, Preschool Exome Females Genetic Loci High-Throughput Nucleotide Sequencing Histone-Lysine N-Methyltransferase Homo sapiens Male Mutation Myeloid-Lymphoid Leukemia Protein Phenotype
8
(4.0%)		 31250358
 A novel de novo mutation (p.Pro1310Glnfs*46) in KMT2A caused Wiedemann-Steiner Syndrome in a Chinese boy with postnatal growth retardation: a case report.
Chen M, Liu R, Wu C, Li X, Wang Y.
Mol Biol Rep. 2019;:.
Growth delay
Asians China Contracture Facies Growth Disorders High-Throughput Nucleotide Sequencing Histone-Lysine N-Methyltransferase Homo sapiens Infant Intellectual Disability Male Microcephaly Mutation Myeloid-Lymphoid Leukemia Protein Phenotype
8
(4.0%)		 31168168
 Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report.
Ramirez-Montano D, Pachajoa H.
Colomb Med (Cali). 2019;50(1):40-45.
Hypertrichosis
KMT2A
c|DUP|4177|A|
Females Genotype Histone-Lysine N-Methyltransferase Homo sapiens Hypertrichosis Infant Intellectual Disability Mutation Myeloid-Lymphoid Leukemia Protein Phenotype Syndrome
8
(4.0%)		 30549396
 The progression of Wiedemann-Steiner syndrome in adulthood and two novel variants in the KMT2A gene.
Feldman HR, Dlouhy SR, Lah MD, Payne KK, Weaver DD.
Am J Med Genet A. 2019;179(2):300-305.
Hypertrichosis
Adult Child Child, Preschool Contracture Developmental Disabilities Disease Progression Facies Females Growth Disorders Histone-Lysine N-Methyltransferase Homo sapiens Hypertrichosis Infant Intellectual Disability Male Microcephaly Myeloid-Lymphoid Leukemia Protein Phenotype Young Adult
        

Phenotype(s) retrieved from Orphanet

    Total: 58

HPO ID Term Frequency
HP:0000750 Delayed speech and language development Very frequent (99-80%)
HP:0000219 Thin upper lip vermilion Frequent (79-30%)
HP:0000311 Round face Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000324 Facial asymmetry Frequent (79-30%)
HP:0000343 Long philtrum Frequent (79-30%)
HP:0000431 Wide nasal bridge Frequent (79-30%)
HP:0000527 Long eyelashes Frequent (79-30%)
HP:0000574 Thick eyebrow Frequent (79-30%)
HP:0000708 Behavioral abnormality Frequent (79-30%)
HP:0000718 Aggressive behavior Frequent (79-30%)
HP:0000733 Stereotypy Frequent (79-30%)
HP:0000736 Short attention span Frequent (79-30%)
HP:0000739 Anxiety Frequent (79-30%)
HP:0000744 Low frustration tolerance Frequent (79-30%)
HP:0000752 Hyperactivity Frequent (79-30%)
HP:0000824 Growth hormone deficiency Frequent (79-30%)
HP:0001182 Tapered finger Frequent (79-30%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0002015 Dysphagia Frequent (79-30%)
HP:0002194 Delayed gross motor development Frequent (79-30%)
HP:0002750 Delayed skeletal maturation Frequent (79-30%)
HP:0004540 Congenital, generalized hypertrichosis Frequent (79-30%)
HP:0005616 Accelerated skeletal maturation Frequent (79-30%)
HP:0008897 Postnatal growth retardation Frequent (79-30%)
HP:0009811 Abnormality of the elbow Frequent (79-30%)
HP:0011968 Feeding difficulties Frequent (79-30%)
HP:0012745 Short palpebral fissure Frequent (79-30%)
HP:0000218 High palate Occasional (29-5%)
HP:0000252 Microcephaly Occasional (29-5%)
HP:0000268 Dolichocephaly Occasional (29-5%)
HP:0000348 High forehead Occasional (29-5%)
HP:0000369 Low-set ears Occasional (29-5%)
HP:0000465 Webbed neck Occasional (29-5%)
HP:0000506 Telecanthus Occasional (29-5%)
HP:0000508 Ptosis Occasional (29-5%)
HP:0000664 Synophrys Occasional (29-5%)
HP:0000767 Pectus excavatum Occasional (29-5%)
HP:0000960 Sacral dimple Occasional (29-5%)
HP:0001155 Abnormality of the hand Occasional (29-5%)
HP:0001249 Intellectual disability Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001273 Abnormal corpus callosum morphology Occasional (29-5%)
HP:0001508 Failure to thrive Occasional (29-5%)
HP:0001511 Intrauterine growth retardation Occasional (29-5%)
HP:0002020 Gastroesophageal reflux Occasional (29-5%)
HP:0002230 Generalized hirsutism Occasional (29-5%)
HP:0002361 Psychomotor deterioration Occasional (29-5%)
HP:0003196 Short nose Occasional (29-5%)
HP:0004209 Clinodactyly of the 5th finger Occasional (29-5%)
HP:0004322 Short stature Occasional (29-5%)
HP:0006712 Aplasia/Hypoplasia of the ribs Occasional (29-5%)
HP:0007930 obsolete Prominent epicanthal folds Occasional (29-5%)
HP:0008905 Rhizomelia Occasional (29-5%)
HP:0010485 Hyperextensibility at elbow Occasional (29-5%)
HP:0012368 Flat face Occasional (29-5%)
HP:0030084 Clinodactyly Occasional (29-5%)
HP:0100581 Dilatation of renal calices Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 9

HPO ID Term # of case reports
HP:0001249 Intellectual disability 7
HP:0004322 Short stature 6
HP:0000998 Hypertrichosis 4
HP:0000574 Thick eyebrow 2
HP:0045025 Narrow palpebral fissure 2
HP:0000133 Gonadal dysgenesis 1
HP:0000316 Hypertelorism 1
HP:0000431 Wide nasal bridge 1
HP:0000455 Broad nasal tip 1


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
SMC1A structural maintenance of chromosomes 1A 8243
KMT2A lysine methyltransferase 2A 4297