MCID: WLF002
MIFTS: 45

Wolf-Hirschhorn Syndrome malady

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

Aliases & Classifications for Wolf-Hirschhorn Syndrome

About this section

Aliases & Descriptions for Wolf-Hirschhorn Syndrome:

Name: Wolf-Hirschhorn Syndrome 52 11 71 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 Syndrome 48
Chromosome 4p Monosomy 25
Telomeric Deletion 4p 48
Partial Monosomy 4p 25
Distal Deletion 4p 48
Distal Monosomy 4p 48
Del Syndrome 25
Pitt Syndrome 11
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

About this section
NIH Rare Diseases:48 Wolf-Hirschhorn syndrome (WHS) is a genetic condition 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 affected people, and studies suggest that larger deletions tend to result in more severe features. Most cases of WHS are not inherited, but some cases are inherited from an unaffected parent. Last updated: 12/4/2014

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 microcephaly, dolichocephaly and epicanthus. An important gene associated with Wolf-Hirschhorn Syndrome is NSD2 (Nuclear Receptor Binding SET Domain Protein 2), and among its related pathways is Neuroscience. Affiliated tissues include heart, brain and eye.

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

About this section

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



Diseases related to wolf-hirschhorn syndrome

Symptoms & Phenotypes for Wolf-Hirschhorn Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

194190

Clinical features from OMIM:

194190

Human phenotypes related to Wolf-Hirschhorn Syndrome:

 64 (show all 114)
id Description HPO Frequency HPO Source Accession
1 microcephaly64 hallmark (90%) HP:0000252
2 dolichocephaly64 hallmark (90%) HP:0000268
3 epicanthus64 hallmark (90%) HP:0000286
4 hypertelorism64 hallmark (90%) HP:0000316
5 short philtrum64 hallmark (90%) HP:0000322
6 micrognathia64 hallmark (90%) HP:0000347
7 high forehead64 hallmark (90%) HP:0000348
8 low-set, posteriorly rotated ears64 hallmark (90%) HP:0000368
9 downslanted palpebral fissures64 hallmark (90%) HP:0000494
10 seizures64 hallmark (90%) HP:0001250
11 global developmental delay64 hallmark (90%) HP:0001263
12 generalized hypotonia64 hallmark (90%) HP:0001290
13 intrauterine growth retardation64 hallmark (90%) HP:0001511
14 small for gestational age64 hallmark (90%) HP:0001518
15 frontal bossing64 hallmark (90%) HP:0002007
16 incoordination64 hallmark (90%) HP:0002311
17 eeg abnormality64 hallmark (90%) HP:0002353
18 highly arched eyebrow64 hallmark (90%) HP:0002553
19 downturned corners of mouth64 hallmark (90%) HP:0002714
20 decreased muscle mass64 hallmark (90%) HP:0003199
21 high anterior hairline64 hallmark (90%) HP:0009890
22 cognitive impairment64 hallmark (90%) HP:0100543
23 ptosis64 common (75%) HP:0000508
24 failure to thrive64 common (75%) HP:0001508
25 short stature64 common (75%) HP:0004322
26 severe postnatal growth retardation64 common (75%) HP:0008850
27 immunodeficiency64 69% HP:0002721
28 cryptorchidism64 typical (50%) HP:0000028
29 hypospadias64 typical (50%) HP:0000047
30 abnormality of the kidney64 typical (50%) HP:0000077
31 short upper lip64 typical (50%) HP:0000188
32 abnormality of the pinna64 typical (50%) HP:0000377
33 preauricular skin tag64 typical (50%) HP:0000384
34 stenosis of the external auditory canal64 typical (50%) HP:0000402
35 wide nasal bridge64 typical (50%) HP:0000431
36 convex nasal ridge64 typical (50%) HP:0000444
37 strabismus64 typical (50%) HP:0000486
38 rieger anomaly64 typical (50%) HP:0000558
39 iris coloboma64 typical (50%) HP:0000612
40 nystagmus64 typical (50%) HP:0000639
41 optic atrophy64 typical (50%) HP:0000648
42 hypodontia64 typical (50%) HP:0000668
43 congenital diaphragmatic hernia64 typical (50%) HP:0000776
44 sacral dimple64 typical (50%) HP:0000960
45 arachnodactyly64 typical (50%) HP:0001166
46 preaxial hand polydactyly64 typical (50%) HP:0001177
47 calvarial skull defect64 typical (50%) HP:0001362
48 atria septal defect64 typical (50%) HP:0001631
49 abnormality of the heart valves64 typical (50%) HP:0001654
50 prominent glabella64 typical (50%) HP:0002057
51 scoliosis64 typical (50%) HP:0002650
52 delayed skeletal maturation64 typical (50%) HP:0002750
53 kyphosis64 typical (50%) HP:0002808
54 abnormal form of the vertebral bodies64 typical (50%) HP:0003312
55 preauricular pit64 typical (50%) HP:0004467
56 craniofacial asymmetry64 typical (50%) HP:0004484
57 aplasia/hypoplasia of the lungs64 typical (50%) HP:0006703
58 conductive hearing impairment64 40% HP:0000405
59 proptosis64 frequent (33%) HP:0000520
60 stereotypy64 frequent (33%) HP:0000733
61 rib fusion64 frequent (33%) HP:0000902
62 hemangioma64 frequent (33%) HP:0001028
63 talipes equinovarus64 frequent (33%) HP:0001762
64 rib segmentation abnormalities64 frequent (33%) HP:0006655
65 sensorineural hearing impairment64 15% HP:0000407
66 cleft palate64 occasional (7.5%) HP:0000175
67 otitis media64 occasional (7.5%) HP:0000388
68 megalocornea64 occasional (7.5%) HP:0000485
69 retinopathy64 occasional (7.5%) HP:0000488
70 sclerocornea64 occasional (7.5%) HP:0000647
71 split hand64 occasional (7.5%) HP:0001171
72 agenesis of corpus callosum64 occasional (7.5%) HP:0001274
73 hip dysplasia64 occasional (7.5%) HP:0001385
74 disproportionate tall stature64 occasional (7.5%) HP:0001519
75 preaxial foot polydactyly64 occasional (7.5%) HP:0001841
76 recurrent respiratory infections64 occasional (7.5%) HP:0002205
77 abdominal situs inversus64 occasional (7.5%) HP:0003363
78 reduced bone mineral density64 occasional (7.5%) HP:0004349
79 abnormality of the gallbladder64 occasional (7.5%) HP:0005264
80 aplasia/hypoplasia of the nipples64 occasional (7.5%) HP:0006709
81 aplasia/hypoplasia of the cerebellum64 occasional (7.5%) HP:0007360
82 aplasia cutis congenita of scalp64 occasional (7.5%) HP:0007385
83 short thumb64 occasional (7.5%) HP:0009778
84 short hallux64 occasional (7.5%) HP:0010109
85 abnormality of movement64 occasional (7.5%) HP:0100022
86 aplasia of the uterus64 rare (5%) HP:0000151
87 hydrocephalus64 rare (5%) HP:0000238
88 webbed neck64 rare (5%) HP:0000465
89 single transverse palmar crease64 rare (5%) HP:0000954
90 biliary tract abnormality64 rare (5%) HP:0001080
91 tethered cord64 rare (5%) HP:0002144
92 intellectual disability64 HP:0001249
93 muscular hypotonia64 HP:0001252
94 cleft upper lip64 HP:0000204
95 precocious puberty64 HP:0000826
96 absent septum pellucidum64 HP:0001331
97 decreased fetal movement64 HP:0001558
98 ventricular septal defect64 HP:0001629
99 accessory spleen64 HP:0001747
100 hyperconvex fingernails64 HP:0001812
101 metatarsus adductus64 HP:0001840
102 gastroesophageal reflux64 HP:0002020
103 ventriculomegaly64 HP:0002119
104 low posterior hairline64 HP:0002162
105 cavum septum pellucidum64 HP:0002389
106 hip dislocation64 HP:0002827
107 vertebral fusion64 HP:0002948
108 radioulnar synostosis64 HP:0002974
109 malrotation of small bowel64 HP:0004794
110 periventricular cysts64 HP:0007109
111 pseudoepiphyses of the metacarpals64 HP:0009193
112 ectopia pupillae64 HP:0009918
113 intellectual disability, severe64 HP:0010864
114 abnormal sternal ossification64 HP:0011863

UMLS symptoms related to Wolf-Hirschhorn Syndrome:


seizures

Drugs & Therapeutics for Wolf-Hirschhorn Syndrome

About this section

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

About this section

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

About this section

MalaCards organs/tissues related to Wolf-Hirschhorn Syndrome:

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

Publications for Wolf-Hirschhorn Syndrome

About this section

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
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
3
Single port laparoscopic splenectomy for wandering spleen with splenomegaly in a patient with Wolf-Hirschhorn syndrome. (28000649)
2016
4
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
5
Excellent response to levetiracetam in epilepsy with Wolf-Hirschhorn syndrome. (26590026)
2016
6
EP10.23: Application of 3D ultrasonography in analysis of fetal anomalies in Wolf-Hirschhorn syndrome. (27645370)
2016
7
Successful treatment of migrating partial seizures in Wolf-Hirschhorn syndrome with bromide. (26797656)
2016
8
Early Postnatal Seizures in a Neonate with Wolf-Hirschhorn Syndrome. (27994945)
2016
9
Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome. (26747863)
2016
10
Airway Management in a Patient with Wolf-Hirschhorn Syndrome. (27752382)
2016
11
Wolf-Hirschhorn Syndrome with Epibulbar Dermoid: An Unusual Association in a Patient with 4p Deletion and Functional Xp Disomy. (27842301)
2016
12
Exploring the developmental mechanisms underlying Wolf-Hirschhorn Syndrome: Evidence for defects in neural crest cell migration. (27777068)
2016
13
Auditory hair cell defects as potential cause for sensorineural deafness in Wolf-Hirschhorn syndrome. (26092122)
2015
14
Wolf-Hirschhorn syndrome: A review and update. (26239400)
2015
15
Atypical Varicella in a Patient With Wolf-Hirschhorn Syndrome. (25673626)
2015
16
Severe short stature and Wolf-Hirschhorn syndrome: response to growth hormone in two cases without growth hormone deficiency. (25988083)
2015
17
Uncommon oral cleft in wolf-hirschhorn syndrome. (25831115)
2015
18
LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition. (24626991)
2014
19
A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome. (24243641)
2014
20
Wolf-Hirschhorn syndrome (WHS) - literature review on the features of the syndrome. (24979523)
2014
21
Clinical features in adult patient with Wolf-Hirschhorn syndrome. (24656633)
2014
22
Wolf-Hirschhorn syndrome: a case study and disease overview. (25137600)
2014
23
Meiotic prophase I defects in an oligospermic man with Wolf-Hirschhorn syndrome with ring chromosome 4. (25057292)
2014
24
Wolf-Hirschhorn syndrome: a case with normal karyotype, demonstrated by array CGH (aCGH). (25204484)
2014
25
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder. (24738919)
2014
26
Affinity for music in Wolf-Hirschhorn syndrome: two case reports. (25266617)
2014
27
Extensive Mongolian spots in 4p16.3 deletion (Wolf-Hirschhorn syndrome). (24859493)
2014
28
Phenotypic variations in wolf-hirschhorn syndrome. (25741211)
2014
29
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
30
A rare subtelomeric deletion syndrome: Wolf Hirschhorn syndrome. (25365852)
2014
31
109a88kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome. (23637096)
2013
32
Prenatal ultrasound findings observed in the Wolf-hirschhorn syndrome: Data from the registry of congenital malformations in auvergne. (24343879)
2013
33
Lung tumor-associated dendritic cell-derived resistin promoted cancer progression by increasing Wolf-Hirschhorn syndrome candidate 1/Twist pathway. (23955539)
2013
34
Microarray analysis of unbalanced translocation in Wolf-Hirschhorn syndrome. (23782367)
2013
35
The histone methyltransferase Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1) is involved in human carcinogenesis. (23011637)
2013
36
Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome. (24357569)
2013
37
Prenatal diagnosis of Wolf-Hirschhorn syndrome: ultrasonography and genetics. (23398546)
2013
38
Diagnosis of familial Wolf-Hirschhorn syndrome due to a paternal cryptic chromosomal rearrangement by conventional and molecular cytogenetic techniques. (23484094)
2013
39
Pediatric diagnosis not made until adulthood: a case of Wolf-Hirschhorn syndrome. (23064045)
2013
40
Meier-Gorlin syndrome and Wolf-Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis. (23706772)
2013
41
Wolf-Hirschhorn syndrome: a historical note and comment on an older adult. (24326957)
2013
42
A case of wolf-hirschhorn syndrome and hypoplastic left heart syndrome. (22639003)
2013
43
Letm1, the mitochondrial Ca2+/H+ antiporter, is essential for normal glucose metabolism and alters brain function in Wolf-Hirschhorn syndrome. (23716663)
2013
44
Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn syndrome. (23963300)
2013
45
Two cases of hepatic adenomas in patients with Wolf-Hirschhorn syndrome: a new rare complication? (23696331)
2013
46
Inflammatory myofibroblastic bladder tumor in a patient with wolf-hirschhorn syndrome. (24024066)
2013
47
Three patients with Wolf-Hirschhorn syndrome carrying a satellited chromosome 4p. (22641563)
2012
48
Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports. (23227376)
2012
49
Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome. (21792232)
2012
50
Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature. (22373435)
2012

Variations for Wolf-Hirschhorn Syndrome

About this section

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

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

Pathways for genes affiliated with Wolf-Hirschhorn Syndrome

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
19.1CPLX1, MSX1, WFS1

GO Terms for genes affiliated with Wolf-Hirschhorn Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1NELF complexGO:00320219.8MIR943, NELFA

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of transcription elongation from RNA polymerase II promoterGO:003424410.2MIR943, NELFA
2positive regulation of histone H3-K4 methylationGO:005157110.2MIR943, NELFA
3bone morphogenesisGO:006034910.0FGFR3, MSX1
4positive regulation of viral transcriptionGO:00504349.8MIR943, NELFA

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

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor bindingGO:00171349.5FGFR3, FGFRL1
2fibroblast growth factor-activated receptor activityGO:00050079.4FGFR3, FGFRL1

Sources for Wolf-Hirschhorn Syndrome

About this section
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