WHS
MCID: WLF002
MIFTS: 49

Wolf-Hirschhorn Syndrome (WHS) malady

Categories: Genetic diseases, Rare diseases, Ear diseases, Smell/Taste diseases

Aliases & Classifications for Wolf-Hirschhorn Syndrome

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Aliases & Descriptions for Wolf-Hirschhorn Syndrome:

Name: Wolf-Hirschhorn Syndrome 52 11 23 48 24 25 12 39 13 68
Pitt-Rogers-Danks Syndrome 11 48 24 68
4p- Syndrome 23 48 24 25
Monosomy 4p 23 24 25
4p Deletion Syndrome 11 25
Wittwer Syndrome 48 68
Wolf Syndrome 48 24
Whs 48 25
Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation 48
Chromosome 4p16.3 Deletion Syndrome 11
Chromosome 4 Short Arm Deletion 68
 
Chromosome 4p Deletion Syndrome 25
Chromosome 4p Monosomy 25
Chromosome 4p Syndrome 48
Telomeric Deletion 4p 48
Partial Monosomy 4p 25
Distal Deletion 4p 48
Distal Monosomy 4p 48
Pitt Syndrome 11
Del Syndrome 25
4p Syndrome 48

Characteristics:

HPO:

64
wolf-hirschhorn syndrome:
Inheritance: autosomal dominant inheritance, sporadic

Classifications:



External Ids:

OMIM52 194190
Disease Ontology11 DOID:0050460
ICD1030 Q93.3
SNOMED-CT62 17122004
MeSH39 D054877
NCIt45 C35528

Summaries for Wolf-Hirschhorn Syndrome

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NIH Rare Diseases:48 Wolf-hirschhorn syndrome (whs) is a genetic disorder that affects many parts of the body. the major features include a characteristic facial appearance, delayed growth and development, intellectual disability, low muscle tone (hypotonia), and seizures. other features may include skeletal abnormalities, congenital heart defects, hearing loss, urinary tract malformations, and/or structural brain abnormalities. whs is caused by a missing piece (deletion) of genetic material near the end of the short (p) arm of chromosome 4 (written as 4p-). the size of the deletion varies among people with whs, and studies suggest larger deletions tend to result in more severe features. most cases of whs are not inherited, but some cases are inherited from a parent who does not have whs. treatment depends on the symptoms. last updated: 4/28/2017

MalaCards based summary: Wolf-Hirschhorn Syndrome, also known as pitt-rogers-danks syndrome, is related to chromosome 4p deletion and wieacker-wolff syndrome, and has symptoms including seizures, microcephaly and intellectual disability. An important gene associated with Wolf-Hirschhorn Syndrome is NSD2 (Nuclear Receptor Binding SET Domain Protein 2), and among its related pathways are Lysine degradation and Neuroscience. Affiliated tissues include heart, brain and eye, and related mouse phenotypes are craniofacial and behavior/neurological.

Genetics Home Reference:25 Wolf-Hirschhorn syndrome is a condition that affects many parts of the body. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures.

OMIM:52 Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency,... (194190) more...

GeneReviews for NBK1183

Related Diseases for Wolf-Hirschhorn Syndrome

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Graphical network of the top 20 diseases related to Wolf-Hirschhorn Syndrome:



Diseases related to wolf-hirschhorn syndrome

Symptoms & Phenotypes for Wolf-Hirschhorn Syndrome

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Symptoms by clinical synopsis from OMIM:

194190

Clinical features from OMIM:

194190

Human phenotypes related to Wolf-Hirschhorn Syndrome:

 64 (show all 116)
id Description HPO Frequency HPO Source Accession
1 microcephaly64 HP:0000252
2 intellectual disability64 HP:0001249
3 seizures64 HP:0001250
4 muscular hypotonia64 HP:0001252
5 small for gestational age64 HP:0001518
6 cryptorchidism64 HP:0000028
7 hypospadias64 HP:0000047
8 aplasia of the uterus64 HP:0000151
9 cleft palate64 HP:0000175
10 short upper lip64 HP:0000188
11 cleft upper lip64 HP:0000204
12 hydrocephalus64 HP:0000238
13 epicanthus64 HP:0000286
14 hypertelorism64 HP:0000316
15 short philtrum64 HP:0000322
16 micrognathia64 HP:0000347
17 high forehead64 HP:0000348
18 abnormality of the pinna64 HP:0000377
19 preauricular skin tag64 HP:0000384
20 stenosis of the external auditory canal64 HP:0000402
21 conductive hearing impairment64 HP:0000405
22 sensorineural hearing impairment64 HP:0000407
23 wide nasal bridge64 HP:0000431
24 convex nasal ridge64 HP:0000444
25 webbed neck64 HP:0000465
26 strabismus64 HP:0000486
27 ptosis64 HP:0000508
28 proptosis64 HP:0000520
29 rieger anomaly64 HP:0000558
30 iris coloboma64 HP:0000612
31 nystagmus64 HP:0000639
32 hypodontia64 HP:0000668
33 stereotypy64 HP:0000733
34 precocious puberty64 HP:0000826
35 rib fusion64 HP:0000902
36 single transverse palmar crease64 HP:0000954
37 sacral dimple64 HP:0000960
38 hemangioma64 HP:0001028
39 biliary tract abnormality64 HP:0001080
40 split hand64 HP:0001171
41 preaxial hand polydactyly64 HP:0001177
42 global developmental delay64 HP:0001263
43 agenesis of corpus callosum64 HP:0001274
44 generalized hypotonia64 HP:0001290
45 absent septum pellucidum64 HP:0001331
46 hip dysplasia64 HP:0001385
47 failure to thrive64 HP:0001508
48 intrauterine growth retardation64 HP:0001511
49 decreased fetal movement64 HP:0001558
50 ventricular septal defect64 HP:0001629
51 atrial septal defect64 HP:0001631
52 accessory spleen64 HP:0001747
53 talipes equinovarus64 HP:0001762
54 hyperconvex fingernails64 HP:0001812
55 metatarsus adductus64 HP:0001840
56 preaxial foot polydactyly64 HP:0001841
57 gastroesophageal reflux64 HP:0002020
58 prominent glabella64 HP:0002057
59 ventriculomegaly64 HP:0002119
60 tethered cord64 HP:0002144
61 low posterior hairline64 HP:0002162
62 eeg abnormality64 HP:0002353
63 cavum septum pellucidum64 HP:0002389
64 highly arched eyebrow64 HP:0002553
65 scoliosis64 HP:0002650
66 downturned corners of mouth64 HP:0002714
67 immunodeficiency64 HP:0002721
68 delayed skeletal maturation64 HP:0002750
69 kyphosis64 HP:0002808
70 hip dislocation64 HP:0002827
71 vertebral fusion64 HP:0002948
72 radioulnar synostosis64 HP:0002974
73 decreased muscle mass64 HP:0003199
74 abnormal form of the vertebral bodies64 HP:0003312
75 short stature64 HP:0004322
76 preauricular pit64 HP:0004467
77 craniofacial asymmetry64 HP:0004484
78 malrotation of small bowel64 HP:0004794
79 rib segmentation abnormalities64 HP:0006655
80 periventricular cysts64 HP:0007109
81 aplasia cutis congenita of scalp64 HP:0007385
82 severe postnatal growth retardation64 HP:0008850
83 pseudoepiphyses of the metacarpals64 HP:0009193
84 short thumb64 HP:0009778
85 ectopia pupillae64 HP:0009918
86 short hallux64 HP:0010109
87 intellectual disability, severe64 HP:0010864
88 abnormal sternal ossification64 HP:0011863
89 abnormality of the kidney64 HP:0000077
90 dolichocephaly64 HP:0000268
91 hearing impairment64 HP:0000365
92 low-set, posteriorly rotated ears64 HP:0000368
93 chronic otitis media64 HP:0000389
94 megalocornea64 HP:0000485
95 retinopathy64 HP:0000488
96 downslanted palpebral fissures64 HP:0000494
97 sclerocornea64 HP:0000647
98 optic atrophy64 HP:0000648
99 congenital diaphragmatic hernia64 HP:0000776
100 osteoporosis64 HP:0000939
101 arachnodactyly64 HP:0001166
102 ataxia64 HP:0001251
103 calvarial skull defect64 HP:0001362
104 disproportionate tall stature64 HP:0001519
105 abnormality of the heart valves64 HP:0001654
106 frontal bossing64 HP:0002007
107 recurrent respiratory infections64 HP:0002205
108 abdominal situs inversus64 HP:0003363
109 abnormality of the gallbladder64 HP:0005264
110 aplasia/hypoplasia of the lungs64 HP:0006703
111 aplasia/hypoplasia of the nipples64 HP:0006709
112 aplasia/hypoplasia of the cerebellum64 HP:0007360
113 microtia64 HP:0008551
114 hypoplastic pubic rami64 HP:0008830
115 high anterior hairline64 HP:0009890
116 abnormality of movement64 HP:0100022

UMLS symptoms related to Wolf-Hirschhorn Syndrome:


seizures

MGI Mouse Phenotypes related to Wolf-Hirschhorn Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.4FGFR3, FGFRL1, LETM1, MSX1, NSD2
2MP:00053868.0CPLX1, FGFR3, FGFRL1, LETM1, MSX1, NSD3
3MP:00053787.6CPLX1, CTBP1, FGFR3, FGFRL1, LETM1, MSX1
4MP:00107686.4CPLX1, CTBP1, FGFR3, FGFRL1, LETM1, MSX1

Drugs & Therapeutics for Wolf-Hirschhorn Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Wolf-Hirschhorn Syndrome


Cochrane evidence based reviews: wolf-hirschhorn syndrome

Genetic Tests for Wolf-Hirschhorn Syndrome

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Genetic tests related to Wolf-Hirschhorn Syndrome:

id Genetic test Affiliating Genes
1 Wolf-Hirschhorn Syndrome24
2 Pitt-Rogers-Danks Syndrome24

Anatomical Context for Wolf-Hirschhorn Syndrome

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MalaCards organs/tissues related to Wolf-Hirschhorn Syndrome:

36
Heart, Brain, Eye, Spleen, Lung, Skin, Uterus

Publications for Wolf-Hirschhorn Syndrome

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Articles related to Wolf-Hirschhorn Syndrome:

(show top 50)    (show all 232)
idTitleAuthorsYear
1
Neuroblastoma in a Child With Wolf-Hirschhorn Syndrome. (28085742)
2017
2
Excellent response to levetiracetam in epilepsy with Wolf-Hirschhorn syndrome. (26590026)
2016
3
Detection of recurrent 4p16.3 microdeletion with 2p25.3 microduplication by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in a fetus from a family with Wolf-Hirschhorn syndrome. (26927259)
2016
4
EP10.23: Application of 3D ultrasonography in analysis of fetal anomalies in Wolf-Hirschhorn syndrome. (27645370)
2016
5
Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome. (26747863)
2016
6
Wolf-Hirschhorn Syndrome with Epibulbar Dermoid: An Unusual Association in a Patient with 4p Deletion and Functional Xp Disomy. (27842301)
2016
7
Early Postnatal Seizures in a Neonate with Wolf-Hirschhorn Syndrome. (27994945)
2016
8
Airway Management in a Patient with Wolf-Hirschhorn Syndrome. (27752382)
2016
9
Exploring the developmental mechanisms underlying Wolf-Hirschhorn Syndrome: Evidence for defects in neural crest cell migration. (27777068)
2016
10
Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization. (26960370)
2016
11
Single port laparoscopic splenectomy for wandering spleen with splenomegaly in a patient with Wolf-Hirschhorn syndrome. (28000649)
2016
12
Successful treatment of migrating partial seizures in Wolf-Hirschhorn syndrome with bromide. (26797656)
2016
13
Severe short stature and Wolf-Hirschhorn syndrome: response to growth hormone in two cases without growth hormone deficiency. (25988083)
2015
14
Atypical Varicella in a Patient With Wolf-Hirschhorn Syndrome. (25673626)
2015
15
Wolf-Hirschhorn syndrome: A review and update. (26239400)
2015
16
Auditory hair cell defects as potential cause for sensorineural deafness in Wolf-Hirschhorn syndrome. (26092122)
2015
17
Uncommon oral cleft in wolf-hirschhorn syndrome. (25831115)
2015
18
Meiotic prophase I defects in an oligospermic man with Wolf-Hirschhorn syndrome with ring chromosome 4. (25057292)
2014
19
Wolf-Hirschhorn syndrome: a case study and disease overview. (25137600)
2014
20
A cryptic unbalanced translocation der(4)t(4;17)(p16.1;q25.3) identifies Wittwer syndrome as a variant of Wolf-Hirschhorn syndrome. (25251057)
2014
21
Clinical features in adult patient with Wolf-Hirschhorn syndrome. (24656633)
2014
22
A rare subtelomeric deletion syndrome: Wolf Hirschhorn syndrome. (25365852)
2014
23
Wolf-Hirschhorn syndrome: a case with normal karyotype, demonstrated by array CGH (aCGH). (25204484)
2014
24
Extensive Mongolian spots in 4p16.3 deletion (Wolf-Hirschhorn syndrome). (24859493)
2014
25
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder. (24738919)
2014
26
Wolf-Hirschhorn syndrome (WHS) - literature review on the features of the syndrome. (24979523)
2014
27
Phenotypic variations in wolf-hirschhorn syndrome. (25741211)
2014
28
LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition. (24626991)
2014
29
Affinity for music in Wolf-Hirschhorn syndrome: two case reports. (25266617)
2014
30
A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome. (24243641)
2014
31
Meier-Gorlin syndrome and Wolf-Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis. (23706772)
2013
32
109a88kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome. (23637096)
2013
33
The histone methyltransferase Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1) is involved in human carcinogenesis. (23011637)
2013
34
Inflammatory myofibroblastic bladder tumor in a patient with wolf-hirschhorn syndrome. (24024066)
2013
35
Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome. (24357569)
2013
36
Microarray analysis of unbalanced translocation in Wolf-Hirschhorn syndrome. (23782367)
2013
37
Pediatric diagnosis not made until adulthood: a case of Wolf-Hirschhorn syndrome. (23064045)
2013
38
Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn syndrome. (23963300)
2013
39
A case of wolf-hirschhorn syndrome and hypoplastic left heart syndrome. (22639003)
2013
40
Diagnosis of familial Wolf-Hirschhorn syndrome due to a paternal cryptic chromosomal rearrangement by conventional and molecular cytogenetic techniques. (23484094)
2013
41
Two cases of hepatic adenomas in patients with Wolf-Hirschhorn syndrome: a new rare complication? (23696331)
2013
42
Prenatal diagnosis of Wolf-Hirschhorn syndrome: ultrasonography and genetics. (23398546)
2013
43
Lung tumor-associated dendritic cell-derived resistin promoted cancer progression by increasing Wolf-Hirschhorn syndrome candidate 1/Twist pathway. (23955539)
2013
44
Letm1, the mitochondrial Ca2+/H+ antiporter, is essential for normal glucose metabolism and alters brain function in Wolf-Hirschhorn syndrome. (23716663)
2013
45
Wolf-Hirschhorn syndrome: a historical note and comment on an older adult. (24326957)
2013
46
Prenatal ultrasound findings observed in the Wolf-hirschhorn syndrome: Data from the registry of congenital malformations in auvergne. (24343879)
2013
47
Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports. (23227376)
2012
48
Interstitial microduplication 12q13.2-q13.3 in a patient with dysmorphism, developmental delay, atypical seizures and hypospadias: not a phenocopy of Wolf-Hirschhorn syndrome. (22772582)
2012
49
Wolf-Hirschhorn syndrome: A case demonstrated by a cytogenetic study. (22754235)
2012
50
Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome. (22328085)
2012

Variations for Wolf-Hirschhorn Syndrome

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Copy number variations for Wolf-Hirschhorn Syndrome from CNVD:

6 (show all 14)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1179944413100000Copy numberWolf-Hirschhorn syndrome
2179946413100000Copy numberLETM1Wolf-Hirschhorn syndrome
3179948413100000Copy numberWHSC1Wolf-Hirschhorn syndrome
4179949413100000Copy numberWHSC1Wolf-Hirschhorn syndrome
5179955413100000MicrodeletionWolf-Hirschhorn syndrome
6179956413100000MicrodeletionFGFR3Wolf-Hirschhorn syndrome
7179966414500000DeletionWHCRWolf-Hirschhorn syndrome
8185923425678122704100MicrodeletionFAM193AWolf-Hirschhorn syndrome
9186013427131842727859MicrodeletionTNIP2Wolf-Hirschhorn syndrome
10186039427645472812621MicrodeletionSH3BP2Wolf-Hirschhorn syndrome
11186069428153812901587MicrodeletionADD1Wolf-Hirschhorn syndrome
12186114429020922906359MicrodeletionMFSD10Wolf-Hirschhorn syndrome
13186117429094612934916MicrodeletionNOP14Wolf-Hirschhorn syndrome
14186132429351403012272MicrodeletionGRK4Wolf-Hirschhorn syndrome

Expression for genes affiliated with Wolf-Hirschhorn Syndrome

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Search GEO for disease gene expression data for Wolf-Hirschhorn Syndrome.

Pathways for genes affiliated with Wolf-Hirschhorn Syndrome

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Pathways related to Wolf-Hirschhorn Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.8NSD2, NSD3
28.8CPLX1, MSX1, WFS1

GO Terms for genes affiliated with Wolf-Hirschhorn Syndrome

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Biological processes related to Wolf-Hirschhorn Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1bone morphogenesisGO:006034910.3FGFR3, MSX1
2negative regulation of transcription from RNA polymerase II promoterGO:00001228.5CTBP1, MSX1, NSD2, WFS1

Molecular functions related to Wolf-Hirschhorn Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor bindingGO:001713410.1FGFR3, FGFRL1
2fibroblast growth factor-activated receptor activityGO:000500710.0FGFR3, FGFRL1
3histone-lysine N-methyltransferase activityGO:00180249.8NSD2, NSD3

Sources for Wolf-Hirschhorn Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet