Disease #02534 (WDSTS (Wiedemann-Steiner syndrome), OMIM:605130)

Official abbreviation WDSTS
Name Wiedemann-Steiner syndrome
OMIM ID 605130
Human Phenotype Ontology Project (HPO) HPO
Inheritance Polygenic (>3 genes)
Individuals reported having this disease 49
Phenotype entries for this disease 48
Associated with 1 gene KMT2A
Associated tissues -
Disease features thick eyebrows, synophrys and thick eyelashes with vertically narrow and down-slanting palpebral fissures.  
global developmental delay (HP:0001263); intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); short stature (HP:0004322); no obesity (-HP:0001513); digital abnormalities (HP_0011297); hypertrichosis over their forearms, legs and back
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2023-01-03 20:54:56 +01:00 (CET)


Individuals

49 entries on 1 page. Showing entries 1 - 49.
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00056281 - PubMed: Jones 2012 - M - (United Kingdom (Great Britain)) - - - - - WDSTS Eyebrow lateral flare Thick eyebrows Long eyelashes Palpebral fissures, downslanting Palpebral fissures, vertically narrow Wide nasal bridge Broad nasal tip Upper vermillion border, thin Broad first digits Slim and muscular build Rib anomalies Sacral dimple Constipation Feeding difficulties Nasogastric and percutaneous endoscopic gastrostomy feeding Hypertrichosis cubiti Hypertrichosis, back Developmental delay Intellectual disability Autism Aggressive behavior Poor sleep Short stature Postnatal growth retardation KMT2A KMT2A 1 1 Guorui Hu
00056283 - PubMed: Jones WD. 2012 - F - - - - - - - WDSTS Eyebrow lateral flare Long eyelashes Palpebral fissures, downslanting Palpebral fissures, vertically narrow Wide nasal bridge Broad nasal tip Cupid’s bow, exaggerated Tapering fingers 2-3 toe syndactyly Long hallux Slim and muscular build Sacral dimple Constipation Feeding difficulties Nasogastric and percutaneous endoscopic gastrostomy feeding Hypertrichosis cubiti Hypertrichosis, back Developmental delay Intellectual disability Autism Poor sleep Short stature Postnatal growth retardation Intrauterine growth retardation Microcephaly KMT2A KMT2A 1 1 Guorui Hu
00056284 - PubMed: Jones WD. 2012 - F - - - - - - - WDSTS Thick eyebrows Long eyelashes Palpebral fissures, downslanting Palpebral fissures, vertically narrow Wide nasal bridge Broad nasal tip Cupid’s bow, exaggerated Rib anomalies Sacral dimple Hypertrichosis cubiti Hypertrichosis, back Hypertrichosis, lower limbs Developmental delay Intellectual disability Aggressive behavior Postnatal growth retardation Intrauterine growth retardation KMT2A KMT2A 1 1 Guorui Hu
00056286 - PubMed: Jones WD. 2012 - M - - - - - - - WDSTS Thick eyebrows Long eyelashes Palpebral fissures, downslanting Palpebral fissures, vertically narrow Wide nasal bridge Broad nasal tip Cupid’s bow, exaggerated Broad first digits Tapering fingers 2-3 toe syndactyly Long hallux Slim and muscular build Rib anomalies Constipation Feeding difficulties Hypertrichosis cubiti Hypertrichosis, back Developmental delay Intellectual disability Aggressive behavior Postnatal growth retardation Intrauterine growth retardation Microcephaly KMT2A KMT2A 1 1 Guorui Hu
00056289 - PubMed: Jones WD. 2012 - F - - - - - - - WDSTS Thick eyebrows Long eyelashes Palpebral fissures, downslanting Palpebral fissures, vertically narrow Wide nasal bridge Broad nasal tip Upper vermillion border, thin Tapering fingers Scoliosis Sacral dimple Hypertrichosis cubiti Hypertrichosis, back Hypertrichosis, lower limbs Developmental delay Intellectual disability Patent ductus arteriosus Short stature KMT2A KMT2A 1 1 Guorui Hu
00056290 - PubMed: Strom 2014 - F - Mexico - - - - - WDSTS Thick hair Thick eyebrows Long eyelashes Short palpebral fissures Palpebral fissures, downslanting Hypertelorism Strabismus Wide nasal bridge Depressed nasal bridge Bulbous nose Upper vermillion border, thin Abnormal dentition Tapering fingers Clinodactyly Sacral dimple Feeding difficulties Developmental delay Intellectual disability Hypotonia Urinary tract infections Short stature Postnatal growth retardation Microcephaly KMT2A KMT2A 1 1 Guorui Hu
00056291 - PubMed: Strom 2014 Caucasian (maternal) and Mexican (paternal) ancestry M - Mexico Mexican;white - - - - WDSTS Thick hair Prominent forehead Thick eyebrows Long eyelashes Short palpebral fissures Palpebral fissures, downslanting Hypertelorism Microphthalmia Wide nasal bridge Micrognathia Broad first digits Tapering fingers 3–4 partial left-hand syndactyly 2-3 toe syndactyly Sacral dimple Small hands and feet pectus excavatum Wide anterior fontanelle Hypertrichosis, back Low hair line Developmental delay Hypotonia Short stature Postnatal growth retardation Intrauterine growth retardation KMT2A KMT2A 1 1 Guorui Hu
00056292 - PubMed: Mendelsohn 2014 - F - United States Hispanic - - - - WDSTS Thick hair Prominent forehead Thick eyebrows Long eyelashes Ptosis Hypertelorism Slightly low hanging columella Small ears Abnormal dentition Micrognathia Short fifth finger Mild fifth finger brachyclinodactyly Rib anomalies Congenital hip dysplasia Doughy and redundant skin on her hands Advanced Bone age Feeding difficulties Nasogastric and percutaneous endoscopic gastrostomy feeding Hypertrichosis Hypertrichosis, back Low hair line Developmental delay Intellectual disability Hypotonia CNS malformation Cardiac anomaly Normal TSH, T4, GH, IGF-1, IGFBP3, 17OHP, LH, E2 and T levels Ureterocele Urinary tract infections Grade IV vesicoureteral reflux and a left ureterocele Short stature KMT2A KMT2A 1 1 Guorui Hu
00056297 - PubMed: Calvel 2015 2-generation family, affected boy and brother (different variants/phenotypes) F - Poland - - - - - ?, WDSTS 46,XY sexual development (DSD), complete gonadal dysgenes, Intrauterine growth retardation Postnatal growth retardation Short palpebral fissures Hypertelorism Epicanthus Wide nasal bridge/broad nasal tip Micrognathia Rib anomalies Delayed bone age Constipation Low hair line Developmental delay Intellectual disability Hypotonia Ambiguous genitalia Discordance between gender and karyotype Abnormal gonadal development Normal TSH, T4, GH, LH, high FSH, E2, low T levels KMT2A, NRROS, ZNF674 DAAM2, KMT2A, MOCS1, NRROS, ZNF674 5 2 Guorui Hu
00056298 - PubMed: Dunkerton 2015 monozygotic twin pair F - Australia - - - - - WDSTS Short stature Intrauterine growth retardation Postnatal growth retardation Microcephaly Thick hair Thick eyebrows Long eyelashes Palpebral fissures, vertically narrow Hypertelorism Wide nasal bridge Deep set ears Small ear canals Upper vermillion border, thin High-arched palate  Long philtrum Clinodactyly Small hands and feet Feeding difficulties Nasogastric and percutaneous endoscopic gastrostomy feeding Hypertrichosis cubiti Developmental delay Intellectual disability Hypotonia Patent ductus arteriosus Normal TSH, GH stimulation test, IGF-1, IGFBP3 and cortisol levels Small kidneys KMT2A KMT2A 1 2 Guorui Hu
00056300 - PubMed: Dunkerton 2015 monozygotic twin pair F - Australia - - - - - WDSTS Short stature Intrauterine growth retardation Postnatal growth retardation Microcephaly Thick hair Thick eyebrows Synophrys Long eyelashes Palpebral fissures, vertically narrow Hypertelorism Wide nasal bridge Bulbous nose Small ears Deep set ears Small ear canals Upper vermillion border, thin High-arched palate  Long philtrum Clinodactyly Small hands and feet Normal bone age Feeding difficulties Nasogastric and percutaneous endoscopic gastrostomy feeding Hypertrichosis cubiti Developmental delay Intellectual disability Hypotonia Normal TSH, GH stimulation test, IGF-1, IGFBP3 and cortisol levels Small kidneys KMT2A KMT2A 1 1 Guorui Hu
00056303 - PubMed: Miyake 2015 - M - Japan - - - - - WDSTS Intrauterine growth retardation Short stature Normal head circumference Prominent forehead Thick eyebrows Arched eyebrows Long eyelashes Long palpebral fissures Palpebral fissures, downslanting Ptosis Epicanthus Ectropion of lateral third of lower eyelid Strabismus Short columella Wide nasal bridge Broad nasal tip Depressed nasal tip Prominent ear Auricular deformity Cupid’s bow, exaggerated High-arched palate  Abnormal dentition Hypodontia Micrognathia Broad first digits Short fifth finger Clinodactyly Contracture of the distal interphalangeal joint Hypertrichosis Hypertrichosis, back Hypertrichosis, lower limbs Abnormal dermatoglyphics Prominent digit pads Developmental delay Intellectual disability Hypotonia Cardiac anomaly KMT2A KMT2A 1 1 Guorui Hu
00056305 - PubMed: Miyake 2015 - F - Japan - - - - - WDSTS Intrauterine growth retardation Normal head circumference Short stature Thick hair Prominent forehead Thick eyebrows Wide nasal bridge Broad nasal tip Depressed nasal tip Upper vermillion border, thin High-arched palate  Clinodactyly Sacral dimple Constipation Hypertrichosis Hypertrichosis cubiti Hypertrichosis, back Hypertrichosis, lower limbs Low hair line Developmental delay Intellectual disability Poor sleep KMT2A KMT2A 1 1 Guorui Hu
00056306 - PubMed: Miyake 2015 - M - Australia - - - - - WDSTS Microcephaly Short stature Intrauterine growth retardation Eyebrow lateral flare Thick eyebrows Long eyelashes Palpebral fissures, downslanting Palpebral fissures, vertically narrow Short columella Wide nasal bridge Broad nasal tip Depressed nasal tip Upper vermillion border, thin Abnormal dentition Tapering fingers 2-3 toe syndactyly Clinodactyly Contracture of the distal interphalangeal joint Slim and muscular build Puffy hand and foot Joint laxity Constipation Feeding difficulties Nasogastric and percutaneous endoscopic gastrostomy feeding Hypertrichosis Hypertrichosis cubiti Hypertrichosis, back Hypertrichosis, lower limbs Low hair line Abnormal dermatoglyphics Prominent digit pads Developmental delay Intellectual disability Hypotonia Poor sleep KMT2A KMT2A 1 1 Guorui Hu
00056307 - PubMed: Miyake 2015 - F - Japan - - - - - WDSTS Normal head circumference Short stature Thick hair Prominent forehead Thick eyebrows Arched eyebrows Long eyelashes Palpebral fissures, downslanting Palpebral fissures, vertically narrow Ptosis Hypertelorism Deafness Cupid’s bow, exaggerated Upper vermillion border, thin Micrognathia Tapering fingers Short fifth finger Sacral dimple Puffy hand and foot Constipation Hypertrichosis Hypertrichosis cubiti Hypertrichosis, back Low hair line Developmental delay Intellectual disability KMT2A KMT2A 1 1 Guorui Hu
00056308 - PubMed: Miyake 2015 - M - Japan - - - - - WDSTS Normal head circumference Short stature Thick hair Eyebrow lateral flare Thick eyebrows Arched eyebrows Long eyelashes Long palpebral fissures Palpebral fissures, downslanting Palpebral fissures, vertically narrow Hypertelorism Epicanthus Ectropion of lateral third of lower eyelid Strabismus Wide nasal bridge Depressed nasal tip Cupid’s bow, exaggerated Upper vermillion border, thin Micrognathia Broad first digits Clinodactyly Long hallux Small hands Puffy hands Hypertrichosis Hypertrichosis cubiti Hypertrichosis, back Hypertrichosis, lower limbs Prominent digit pads Developmental delay Intellectual disability Hyperactivity CNS malformation KMT2A KMT2A 1 1 Guorui Hu
00056309 - PubMed: Yuan 2015 - F - Turkey - - - - - WDSTS original diagnosis CDLS; intrauterine growth retardation Microcephaly Short stature Thick hair Synophrys Arched eyebrows Long eyelashes Short palpebral fissures Palpebral fissures, downslanting Hypertelorism Epicanthus Strabismus Low nasal bridge Dysmorphic ears Upper vermillion border, thin High-arched palate  Long philtrum Widely spaced teeth Downturned corners of the mouth Micrognathia Brachydactyly Clinodactyly Hypertrichosis Low hair line Intellectual disability Normal behavioral problems Patent ductus arteriosus KMT2A KMT2A 1 1 Guorui Hu
00056380 - PubMed: Miyake 2015 - F - Japan - - - - - WDSTS initially diagnosed atypical Kabuki syndrome, unavailable for evaluation KMT2A KMT2A 1 1 Johan den Dunnen
00064037 - - - M no China Han Chinese - - - - WDSTS - KMT2A KMT2A 1 1 Guorui Hu
00064038 - - - M no China Han Chinese - - - - WDSTS - KMT2A KMT2A 1 1 Guorui Hu
00079629 - PubMed: Stellacci 2016 2-generation family, 1 affected, unaffected non-carrier parents M no Italy Italian - - - - WDSTS Short stature; Microcephaly; Eyebrow, lateral flare -; Hypertelorism; Downslanted palpebral fissures; Vertically narrow palpebra fissures -; Wide nasal bridge; Broad nasal tip -; Long philtrum -; Thin upper lip; Low-set ears -; Strabismus; Dolichocilia; Thick hair; thick eyebrows; Abnormal dentition; High palate -; Micrognathia -; hypotonia; Advanced bone age -; Small hands and feet; Fleshy hands/feet -; Clinodactyly -; Congenital hip dysplasia; Hypertrichosis cubiti; Hypertrichosis, back; Hypertrichosis, lower limbs; Developmental delay; Intellectual disability; Autism -; Aggressive behavior; Seizure; Hyperactivity -; Cardiovascular anomalies -; Kidney/ureter malformation -; Feeding difficulties; Nasogastric and percutaneous endoscopic gastrostomy feeding; Intestine anomalies; Immunodeficiency; Urinary trait infection; Respiratory trait infection -; Otitis media -; Cryptorchidism; Constipation; Poor sleep; Bulbous nose; Depressed nasal bridge; KMT2A KMT2A 1 1 Guorui Hu
00079630 - PubMed: Steel 2015 2-generation family, 1 affected, unaffected non-carrier parents F yes United Arab Emirates Arabian - - - - WDSTS short stature; Slim and muscular build; microcephaly; Thick eyebrows -; Ptosis; Hypertelorism; Epicanthus; Microphthalmia -; Strabismus; Micrognathia -; Deep set ears; Prominent ear -; Auricular deformity -; Hearing loss -; normal hands and feet; pectus excavatum; Hypertrichosis, cubiti -; Hypertrichosis, back; Hypertrichosis, lower limbs -; Developmental delay; Intellectual disability; Hypotonia; Poor sleep; Feeding difficulties -; Cardiac anomaly -; KMT2A KMT2A 1 1 Guorui Hu
00079631 - PubMed: Zemojtel 2014 - F ? - - - - - - WDSTS short stature； microcephaly； Hypertelorism； flat nose; Thin lips; short neck; full cheeks; Sacral dimple; Developmental delay; Intellectual disability; Feeding difficulties; megaloureter; abnormal midface; cone-shaped epiphysis of the phalanges of the hand; HP:0007441; KMT2A KMT2A 1 1 Guorui Hu
00079632 - PubMed: Zemojtel 2014 - M - - - - - - - WDSTS HP:0000256; HP:0000750; HP:0001263; HP:0000581; HP:0001488; HP:0011039; HP:0010532; Inappropriate sexual behavior; KMT2A KMT2A 1 1 Guorui Hu
00080873 Ind081;Pat3 PubMed: Trujillano 2017, PubMed: Giangiobbe 2020, Journal: Giangiobbe 2020 unaffected non-carrier parents M - - - - - - - WDSTS see paper; ... KMT2A KMT2A 1 1 Daniel Trujillano
00080907 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - WDSTS Wiedemann-Steiner syndrome (OMIM:605130) KMT2A KMT2A 1 1 Daniel Trujillano
00081016 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - WDSTS Wiedemann-Steiner syndrome (OMIM:605130) KMT2A KMT2A 1 1 Daniel Trujillano
00089138 - - - M no - - - - - - WDSTS - KMT2A KMT2A 1 1 Anjali Aggarwal
00092274 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 - - - United States - - - - - WDSTS mild IDD, dysmorphisms, short stature, hairy elbows, dysautonomia, paroxysmal episodes, syncope, migraines, fusion of C2-C3 vertebrae, 11 pairs of ribs, 5th finger clinodactyly and camptodactyly; low copper & ceruloplasmin KMT2A - - 1 Johan den Dunnen
00111395 S_129 PubMed: Popp 2017, Journal: Popp 2017 - M no - - - - - - WDSTS Moderate ID, hypertelorism KMT2A KMT2A 1 1 Bernt Popp
00207351 - - - M - Italy - - - - - WDSTS - KMT2A KMT2A 1 1 Cristina Gervasini
00211186 183121 - - M no China African 07y - - - WDSTS small palpebral fissures, ptosis, telecanthus, and epicanthus inversus ,thick eyebrows、hair and long philtrum、strabismus and amblyopia,low hairline,narrow high palate, abnormal and low-set ears, hypertrichosis back. KMT2A KMT2A 1 1 Jinxiu Liu
00275694 Pat1 PubMed: Giangiobbe 2020, Journal: Giangiobbe 2020 - F no Italy white - - - - WDSTS see paper; ... - KMT2A 1 1 Stefano Giuseppe Caraffi
00276273 Pat2 PubMed: Giangiobbe 2020, Journal: Giangiobbe 2020 - F - - - - - - - WDSTS see paper; ... - KMT2A 1 1 Stefano Giuseppe Caraffi
00276274 Pat5 PubMed: Giangiobbe 2020, Journal: Giangiobbe 2020 - M - - - - - - - WDSTS see paper; ... - KMT2A 1 1 Stefano Giuseppe Caraffi
00276275 Pat6 PubMed: Giangiobbe 2020, Journal: Giangiobbe 2020 - M - - - - - - - WDSTS see paper; ... - KMT2A 1 1 Stefano Giuseppe Caraffi
00276276 Pat7 PubMed: Giangiobbe 2020, Journal: Giangiobbe 2020 - F - - - - - - - WDSTS see paper; ... - KMT2A 1 1 Stefano Giuseppe Caraffi
00276277 Pat9 PubMed: Giangiobbe 2020, Journal: Giangiobbe 2020 - M - - - - - - - WDSTS see paper; ... KMT2A KMT2A 1 1 Stefano Giuseppe Caraffi
00276278 Pat11 PubMed: Giangiobbe 2020, Journal: Giangiobbe 2020 - M - - - - - - - WDSTS see paper; ... - KMT2A 1 1 Stefano Giuseppe Caraffi
00276279 Pat8 PubMed: Giangiobbe 2020, Journal: Giangiobbe 2020 This is NOT the individual described as Patient n.1 in Lebrun N. et al., 2018, Eur J Hum Genet 26(1). M - (Netherlands) - - - - - WDSTS see paper; ... - KMT2A 1 1 Stefano Giuseppe Caraffi
00276280 Pat4 PubMed: Giangiobbe 2020, Journal: Giangiobbe 2020 - M - - - - - - - WDSTS see paper; ... - KMT2A 1 1 Stefano Giuseppe Caraffi
00326206 169933 - - M ? Germany - - - - - WDSTS (+) Abnormality of body height,(+) Abnormality of the head,(+) Microcephaly,(+) Abnormality of the face,(+) Motor delay,(+) Growth delay,(+) Abnormal facial shape,(+) Delayed gross motor development,(+) Short stature,(+) Aplasia/Hypoplasia of the cerebrum,(+) Neurodevelopmental delay,(+) Decreased head circumference KMT2A KMT2A 1 1 Andreas Laner
00380227 182587 - - M ? Greece - - - - - WDSTS Global developmental delay, Delayed speech and language development, Autistic behavior, Ureteropelvic junction obstruction, Abnormality of the philtrum, Thin upper lip vermilion KMT2A KMT2A 1 1 Andreas Laner
00380820 ? PubMed: Nair 2018 - ? - Lebanon - - - - - WDSTS DD; ID; Short stature (Neurological) - KMT2A 1 1 LOVD
00410025 Pat10 PubMed: Giangiobbe 2020, Journal: Giangiobbe 2020 - F - - - - - - - WDSTS see paper; ... KMT2A KMT2A 1 1 Stefano Giuseppe Caraffi
00443882 276534 - - F no Germany - - - - - WDSTS Astigmatism, Hypotonia, Global developmental delay, Motor delay, Plagiocephaly, Constipation, Short stature, Lateral ventricle dilatation KMT2A KMT2A 1 1 Andreas Laner
00448225 284769 - - F no Germany - - - - - WDSTS Short stature, Seizure, EEG abnormality, Intellectual disability, severe, Hypertrichosis, Midface retrusion, Hypertelorism, Poor speech KMT2A KMT2A 1 1 Andreas Laner
00449694 8111 - - M no Germany - - - - - WDSTS Delayed speech and language development, Abnormality of the face, Thick eyebrows, Neurodevelopmental abnormality, Abnormal cardiac septum morphology, Recurrent respiratory infections, Coarctation of aorta KMT2A KMT2A 1 1 Andreas Laner
00455982 296147 - - F no Germany - - - - - WDSTS Microcephaly, Brachydactyly, Short stature, Atrial septal defect KMT2A KMT2A 1 1 Andreas Laner
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