Weaver syndrome

Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.



Input patient's signs and symptoms


Narrow down the case reports



Total: 40 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(72.0%)		 3983749
 Weaver's syndrome--primordial excessive growth velocity. A case report.
Dawood AA, Machado GT, Winship WS.
S Afr Med J. 1985;67(16):646-8.
Long philtrum Micrognathia Large hands
Facial Expression Growth Disorders Homo sapiens Infant Male Syndrome
2
(66.3%)		 3585940
 A girl with the Weaver syndrome.
Thompson EM, Hill S, Leonard JV, Pembrey ME.
J Med Genet. 1987;24(4):232-4.
Broad forehead Long philtrum Micrognathia
Age Determination by Skeleton Bone Diseases, Developmental Child, Preschool Face Females Homo sapiens Syndrome
3
(60.4%)		 16176320
 The upper airway in Weaver syndrome.
Crawford MW, Rohan D.
Paediatr Anaesth. 2005;15(10):893-6.
Pierre-Robin sequence Micrognathia
Anesthetics, Inhalation Child Child, Preschool Dental Restoration, Permanent General Anesthesia Homo sapiens Intubation, Intratracheal Male Micrognathism
4
(59.0%)		 1785638
 Weaver syndrome in two Japanese children.
Kondo I, Mori Y, Kuwajima K.
Am J Med Genet. 1991;41(2):221-4.
Broad forehead Micrognathia
Age Determination by Skeleton Child, Preschool Face Females Growth Disorders Homo sapiens Infant Intellectual Disability Male Shyness Syndrome
5
(58.7%)		 6705243
 A Weaver-like syndrome in a Japanese boy.
Tsukahara M, Tanaka S, Kajii T.
Clin Genet. 1984;25(1):73-8.
Pectus excavatum Clinodactyly Slanting of the palpebral fissure Cleft lip
Age Determination by Skeleton Asians Dermatoglyphics Growth Disorders Hoarseness Homo sapiens Infant, Newborn Intellectual Disability Japan Male Syndrome
6
(57.8%)		 26084782
 Oral, radiographical, and clinical findings in Weaver syndrome: a case report.
Miller K, Abukabbos H, Mugayar L.
Spec Care Dentist. 2015;35(5):253-257.
Micrognathia
6
(57.8%)		 9235073
 [Weaver syndrome. 1st case reported in Venezuela].
Sanchez O, Boufajreldin S, Oranges C, Orta C, Guerra D.
Invest Clin. 1997;38(1):9-24.
Macrocephaly Micrognathia
Age Determination by Skeleton Child, Preschool Chromosomes, Human, Pair 16 Congenital Hand Deformities Craniofacial Dysostosis Differential Diagnosis Females Genomic Imprinting Growth Disorders Homo sapiens Syndrome Venezuela
8
(46.3%)		 7318839
 The Weaver syndrome: a rare type of primordial overgrowth.
Majewski F, Ranke M, Kemperdick H, Schmidt E.
Eur J Pediatr. 1981;137(3):277-82.
Macrocephaly Talipes equinovarus
Bone Diseases, Developmental Face Growth Disorders Homo sapiens Infant Male Muscle Hypertonia Syndrome
9
(39.0%)		 29410511
 Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome.
Smigiel R, Biernacka A, Biela M, Murcia-Pienkowski V, Szmida E, Gasperowicz P, Kosinska J, Kostrzewa G, Koppolu AA, Walczak A, Wawrzuta D, Rydzanicz M, Sasiadek M, Ploski R.
J Hum Genet. 2018;63(4):517-520.
Macrocephaly
EED EZH2
c|INDEL|917_919|CGG
Alleles Amino Acid Substitution Congenital Hand Deformities Congenital Hypothyroidism Craniofacial Abnormalities DNA Mutational Analysis Facies Homo sapiens Infant Male Mutation Phenotype Polycomb Repressive Complex 2 Whole Exome Sequencing
9
(39.0%)		 27868325
 Novel EED mutation in patient with Weaver syndrome.
Cooney E, Bi W, Schlesinger AE, Vinson S, Potocki L.
Am J Med Genet A. 2017;173(2):541-545.
Macrocephaly
rs1131692175
Congenital Hand Deformities Congenital Hypothyroidism Craniofacial Abnormalities Facies Females Genetic Association Studies Homo sapiens Infant Mutation Phenotype Physical Examination Polycomb Repressive Complex 2 Sequence Analysis, DNA
        

Phenotype(s) retrieved from Orphanet

    Total: 42

HPO ID Term Frequency
HP:0000098 Tall stature Very frequent (99-80%)
HP:0000256 Macrocephaly Very frequent (99-80%)
HP:0000278 Retrognathia Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000337 Broad forehead Very frequent (99-80%)
HP:0000343 Long philtrum Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000368 Low-set, posteriorly rotated ears Very frequent (99-80%)
HP:0000400 Macrotia Very frequent (99-80%)
HP:0000944 Abnormality of the metaphysis Very frequent (99-80%)
HP:0001231 Abnormal fingernail morphology Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001257 Spasticity Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001276 Hypertonia Very frequent (99-80%)
HP:0001582 Redundant skin Very frequent (99-80%)
HP:0001609 Hoarse voice Very frequent (99-80%)
HP:0001800 Hypoplastic toenails Very frequent (99-80%)
HP:0001814 Deep-set nails Very frequent (99-80%)
HP:0001816 Thin nail Very frequent (99-80%)
HP:0005616 Accelerated skeletal maturation Very frequent (99-80%)
HP:0010300 Abnormally low-pitched voice Very frequent (99-80%)
HP:0000023 Inguinal hernia Frequent (79-30%)
HP:0000311 Round face Frequent (79-30%)
HP:0001176 Large hands Frequent (79-30%)
HP:0001387 Joint stiffness Frequent (79-30%)
HP:0001769 Broad foot Frequent (79-30%)
HP:0002002 Deep philtrum Frequent (79-30%)
HP:0002213 Fine hair Frequent (79-30%)
HP:0008872 Feeding difficulties in infancy Frequent (79-30%)
HP:0011304 Broad thumb Frequent (79-30%)
HP:0100490 Camptodactyly of finger Frequent (79-30%)
HP:0000028 Cryptorchidism Occasional (29-5%)
HP:0000494 Downslanted palpebral fissures Occasional (29-5%)
HP:0001761 Pes cavus Occasional (29-5%)
HP:0001762 Talipes equinovarus Occasional (29-5%)
HP:0001852 Sandal gap Occasional (29-5%)
HP:0002564 obsolete Malformation of the heart and great vessels Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0005692 Joint hyperflexibility Occasional (29-5%)
HP:0006101 Finger syndactyly Occasional (29-5%)
HP:0008736 Hypoplasia of penis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 20

HPO ID Term # of case reports
HP:0001548 Overgrowth 12
HP:0001249 Intellectual disability 5
HP:0000256 Macrocephaly 4
HP:0000098 Tall stature 2
HP:0012385 Camptodactyly 2
HP:0000201 Pierre-Robin sequence 1
HP:0000347 Micrognathia 1
HP:0000470 Short neck 1
HP:0001276 Hypertonia 1
HP:0001537 Umbilical hernia 1
HP:0001609 Hoarse voice 1
HP:0001638 Cardiomyopathy 1
HP:0001643 Patent ductus arteriosus 1
HP:0001761 Pes cavus 1
HP:0001974 Leukocytosis 1
HP:0002664 Neoplasm 1
HP:0003510 Severe short stature 1
HP:0004322 Short stature 1
HP:0012444 Brain atrophy 1
HP:0200000 Dysharmonic bone age 1


Causative gene(s) retrieved from Orphanet

    Total: 4

Gene Symbol Gene Name Entrez Gene ID
EED embryonic ectoderm development 8726
NSD1 nuclear receptor binding SET domain protein 1 64324
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit 2146
SUZ12 SUZ12 polycomb repressive complex 2 subunit 23512