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Table 1 Clinical Summaries of the Chinese Wiedemann–Steiner Syndrome (WDSTS) Patients

From: Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients

Patient ID 1 2 3 4 5 6 7 8
Gender F M M F M F F F
Gestation (weeks) 35 Full term Full term 35 Full term Full term Full term Full term
Birth height (cm)/weight (kg) 49/2.9 Unknown/3.1 50/3.2 43/1.9 50/3.2 Unknown/3.4 Unknown/3.3 Unknown/3.8
Age at last examination 3-year-3-month 3-year 6-year-7-month 5-year 5-year-7-month 8-year-10-month 25-year 9-year-10-month
Current height (cm)/weight (kg) 92 (−1.75 SD)/ 11.8 (−2.30 SD) 85(−3.16 SD)/ 11.0(− 2.67 SD) 106 (− 3.18 SD)/ 16.2 (− 2.51SD) 96.5 (−5.32 SD)/ 13.5 (− 4.12 SD) 105(−2.26 SD)/
18.0 (− 1.09 SD)
131 (−0.34 SD)/ 32.5 (+ 1.01 SD) 158 (− 0.57 SD)/
65 (+ 1.68 SD)
107 (− 4.72 SD)/
17.0(− 1.90 SD)
Craniofacial features
 Microcephaly (HPO:0000252) + + +
 Macrocephaly (HPO:0000256) +
 Prominent forehead (HPO:0011220) + + + +
 Hypertelorism (HPO:0000316) + + + + + + +
 Ptosis (HPO:0000508) + + + +
 Epicanthus (HPO:0000286)
 Down-turned palpebral fissures (HPO:0000494) + + + + + +
 Wide nasal bridge (HPO:0000431) + + + + + +
 Depressed nasal bridge (HPO:0005280) + + + + +
 Long philtrum (HPO:0000343) + + + +
 Low set ears (HPO:0000368) + + +
 External ear deformity(HPO:0040111)
 Thin upper lip (HPO:0000219) + + + +
 Down-turned corners of the mouth (HPO:0000153) + + + + + +
 Micrognathia (HPO:0000347) + + + +
Skeletal anomalies
 Advanced bone age (HPO:0200001) nd nd nd + + nd
 Delayed bone age (HPO:0003799) nd nd nd + nd +
 Brachydactyly (HPO:0001156) + + + +
 Syndactyly (HPO:0001159)
 Clinodactyly (HPO:0030084) + + +
 Puffy hands and feet + + +
 Small hands and feet + + +
 Carpal epiphyseal growth retardation nd nd nd
 Scoliosis (HPO:0002650)
 Sacral dimple (HPO:0000960) +
 Absent palmar proximal transverse creases (HPO:0010489)
 Deep palmar crease (HPO:0006191)
Hairiness
 Thick hair (HPO:0100874) + + + + + +
 Thick eyebrows (HPO:0000574) + + +
 Synophrys (HPO:0000664) +
 Arched eyebrows (HPO:0002553) + + +
 Long eyelashes (HPO:0000527) + + + + + + +
 Low hair line (HPO:0000294) + + + + + + +
 Hypertrichosis, cubiti (HPO:0000998) + + +
 Hypertrichosis, back (HPO:0000998) mild mild + mild mild + mild
 Hypertrichosis, lower limbs (HPO:0000998) +
Developmental and neurology
 Walking delay (HPO:0031936) + +
 Language delay (HPO:0000750) + + + + + +
 Intellectual disability (HPO:0001249) mild + + nd + + +
 Aggressive behavior (HPO:0000718) + + +
 Hyperactivity (HPO:0007018) + +
 Autism (HPO:0000717) +
Organic problems
 Strabismus (HPO:0000486)
 Hyperopia (HPO:0008499) +
 High palate (HPO:0000218) + + + + + +
 Cleft palate (HPO:0000175) +  
 Glossoptosis (HPO:0000162)
 Feeding difficulties (HPO:0011968) + +
 Cardiac anomaly PDA
 Dyslipidemia
 Abnormality of the teeth (HPO:0000164) + + +
 GH deficiency (HPO:0000824) ne ne + + ne ne ne ne
KMT2A variant p.Pro1281Leufs*75 p.Gly3585Argfs*8 p.Ser774Valfs*12 p.Arg3906Cys p.Gly1168Asp p.Arg1081* p.Ser774Valfs*12 c.10900 + 2 T > C
  This study Sun et al.2017 (ref 6) Chinese patients (N = 16; %)
Patient ID 9 10 11 12 13 14 A.II-5 B.II-1  
Gender M M F M F F M M 8 M/8F
Gestation (weeks) Full term Full term 38+ 5 Full term 35+ 5 38+ 5 nd nd  
Birth height (cm)/weight (kg) Unknown Unknown/2.6 51/2.9 50/2.9 46/2.5 Unknown /2.3 nd nd  
Age at last examination 12-year 6-year-9-month 18-month 4-year 17-month 20-month 3-year 6-year  
Current height (cm)/weight (kg) 118 (−3.16 SD)/ 19.5 (−3.76 SD) 102.8 (−4.18 SD) /15.7 (− 3.06 SD) 72 (− 3.28 SD) / 8.0 (−2.75 SD) 100.5 (−0.89 SD)/
15.4 (0.47 SD)
66.0 (−6.25 SD)/
6.7 (− 4.13 SD)
66.0 (−5.90 SD) / 7.1 (− 4.16 SD) <-2SD/nd <-2SD/nd  
Craniofacial features
 Microcephaly (HPO:0000252) + + + + + 8/16; 50%
 Macrocephaly (HPO:0000256) 1/16; 6%
 Prominent forehead (HPO:0011220) + + + 7/16; 44%
 Hypertelorism (HPO:0000316) + + + + + + 13/16; 81%
 Ptosis (HPO:0000508) + + + + + + 10/16; 63%
 Epicanthus (HPO:0000286) + + 2/16; 13%
 Down-turned palpebral fissures (HPO:0000494) + + + + + + 12/16; 75%
 Wide nasal bridge (HPO:0000431) + + + + 10/16; 63%
 Depressed nasal bridge (HPO:0005280) + + + + 9/16; 56%
 Long philtrum (HPO:0000343) + + + + + 9/16; 56%
 Low set ears (HPO:0000368) + + + 6/16; 38%
 External ear deformity (HPO:0040111) + +    2/16; 13%
 Thin upper lip (HPO:0000219) + + + + + + 8/16; 50%
 Down-turned corners of the mouth (HPO:0000153) + + + + + 13/16; 81%
 Micrognathia (HPO:0000347) +    7/16; 44%
Skeletal anomalies
 Advanced bone age (HPO:0200001) nd nd 2/10; 20%
 Delayed bone age (HPO:0003799) + + + nd nd + + 7/10; 70%
 Brachydactyly (HPO:0001156) + + + + 8/16; 50%
 Syndactyly (HPO:0001159) 2–3 toe 2–3 toe 2–3 toe 3/16; 19%
 Clinodactyly (HPO:0030084)   + 4/16; 25%
 Puffy hands and feet + + + + + 8/16; 50%
 Small hands and feet + + + + + 8/16; 50%
 Carpal epiphyseal growth retardation +    1/13; 8%
 Scoliosis (HPO:0002650) + 1/16; 6%
 Sacral dimple (HPO:0000960) + + + 4/16; 25%
 Absent palmar proximal transverse creases (HPO:0010489) + + 2/16; 13%
 Deep palmar crease (HPO:0006191) + 1/16; 6%
Hairiness
 Thick hair (HPO:0100874) + + + + + + + + 14/16; 88%
 Thick eyebrows (HPO:0000574) + + + 6/16; 38%
 Synophrys (HPO:0000664) 1/16; 6%
 Arched eyebrows (HPO:0002553) + + + 6/16; 44%
 Long eyelashes (HPO:0000527) + + + + + + + 15/16; 94%
 Low hair line (HPO:0000294) + + + + + + 13/16; 81%
 Hypertrichosis, cubiti (HPO:0000998) + + mild mild 7/16; 44%
 Hypertrichosis, back (HPO:0000998) + + mild mild + 12/16; 75%
 Hypertrichosis, lower limbs (HPO:0000998) + + + + + + 8/16; 50%
Developmental and neurology
 Walking delay (HPO:0031936) + + + + + + + + 10/16; 63%
 Language delay (HPO:0000750) + + too young + too young + + + 12/14; 86%
 Intellectual disability (HPO:0001249) + + + + + + + + 14/15; 93%
 Aggressive behavior (HPO:0000718) + 4/16; 25%
 Hyperactivity (HPO:0007018) 2/16; 13%
 Autism (HPO:0000717) 1/16; 6%
Organic problems
 Strabismus (HPO:0000486) + + too young too young + 3/14; 21%
 Hyperopia (HPO:0008499) too young too young 1/14; 7%
 High palate (HPO:0000218) + + + + + + 12/16; 75%
 Cleft palate (HPO:0000175) + 1/16; 6%
 Glossoptosis (HPO:0000162) + 1/15; 7%
 Feeding difficulties (HPO:0011968) + + + 5/16; 31%
 Cardiac anomaly BAV PDA 3/16; 19%
 Dyslipidemia + 1/16; 6%
 Abnormality of the teeth (HPO:0000164) + + + + 7/16; 44%
 GH deficiency (HPO:0000824) ne + ne ne ne ne nd nd 3/3; 100%
KMT2A variant p.Gln3613* p.Tyr1957* Pro1354Leufs*2 p.Glu2018fs*7 p.Arg301* p.Trp838lfs*9 p.Gln2803* p.Gln819*  
  1. F female, M male, SD standard deviation, HPO Human phenotype ontology, nd no data, ne not evaluated, PDA patent ductus arteriosus, BAV bicuspid aortic valve, GH Growth hormone