MCID: WLF002
MIFTS: 50

Wolf-Hirschhorn Syndrome malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Wolf-Hirschhorn Syndrome

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Aliases & Descriptions for Wolf-Hirschhorn Syndrome:

Name: Wolf-Hirschhorn Syndrome 50 11 69 22 46 23 24 13 12 37 66
Pitt-Rogers-Danks Syndrome 11 46 23 66
4p Deletion Syndrome 11 24
Wittwer Syndrome 46 66
Pitt Syndrome 11 46
Wolf Syndrome 46 23
4p- Syndrome 23 24
Monosomy 4p 23 24
Whs 46 24
Prenatal and Postnatal Growth Retardation, Blindness, Hearing Loss, Dysmorphic Features, Epilepsy, Mental Retardation and Absence of Speech 46
Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation 46
Mental Retardation, Unusual Facies, and Intrauterine Growth Retardation 46
 
Chromosome 4p16.3 Deletion Syndrome 11
Chromosome 4 Short Arm Deletion 66
Chromosome 4p Deletion Syndrome 24
Pitt Rogers Danks Syndrome 46
Chromosome 4p Syndrome 46
Chromosome 4p Monosomy 24
Partial Monosomy 4p 24
Distal Deletion 4p 46
Del Syndrome 24
4p Syndrome 46
Wtrs 46
Prds 46

Characteristics:

HPO:

62
wolf-hirschhorn syndrome:
Inheritance: autosomal dominant inheritance, sporadic


Classifications:



External Ids:

OMIM50 194190
Disease Ontology11 DOID:0050460
ICD1028 Q93.3
SNOMED-CT60 17122004
MeSH37 D054877
NCIt43 C35528

Summaries for Wolf-Hirschhorn Syndrome

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NIH Rare Diseases:46 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 WHSC1 (Wolf-Hirschhorn Syndrome Candidate 1), 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:24 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:50 Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency,... (194190) more...

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 for Wolf-Hirschhorn Syndrome

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Symptoms by clinical synopsis from OMIM:

194190

Clinical features from OMIM:

194190

HPO human phenotypes related to Wolf-Hirschhorn Syndrome:

(show all 139)
id Description Frequency HPO Source Accession
1 microcephaly hallmark (90%) HP:0000252
2 dolichocephaly hallmark (90%) HP:0000268
3 epicanthus hallmark (90%) HP:0000286
4 hypertelorism hallmark (90%) HP:0000316
5 short philtrum hallmark (90%) HP:0000322
6 micrognathia hallmark (90%) HP:0000347
7 high forehead hallmark (90%) HP:0000348
8 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
9 downslanted palpebral fissures hallmark (90%) HP:0000494
10 seizures hallmark (90%) HP:0001250
11 global developmental delay hallmark (90%) HP:0001263
12 generalized hypotonia hallmark (90%) HP:0001290
13 intrauterine growth retardation hallmark (90%) HP:0001511
14 small for gestational age hallmark (90%) HP:0001518
15 frontal bossing hallmark (90%) HP:0002007
16 incoordination hallmark (90%) HP:0002311
17 eeg abnormality hallmark (90%) HP:0002353
18 highly arched eyebrow hallmark (90%) HP:0002553
19 downturned corners of mouth hallmark (90%) HP:0002714
20 decreased muscle mass hallmark (90%) HP:0003199
21 high anterior hairline hallmark (90%) HP:0009890
22 cognitive impairment hallmark (90%) HP:0100543
23 ptosis common (75%) HP:0000508
24 seizures common (75%) HP:0001250
25 failure to thrive common (75%) HP:0001508
26 short stature common (75%) HP:0004322
27 severe postnatal growth retardation common (75%) HP:0008850
28 immunodeficiency 69% HP:0002721
29 cryptorchidism typical (50%) HP:0000028
30 hypospadias typical (50%) HP:0000047
31 abnormality of the kidney typical (50%) HP:0000077
32 short upper lip typical (50%) HP:0000188
33 microcephaly typical (50%) HP:0000252
34 epicanthus typical (50%) HP:0000286
35 hypertelorism typical (50%) HP:0000316
36 short philtrum typical (50%) HP:0000322
37 micrognathia typical (50%) HP:0000347
38 high forehead typical (50%) HP:0000348
39 abnormality of the pinna typical (50%) HP:0000377
40 preauricular skin tag typical (50%) HP:0000384
41 stenosis of the external auditory canal typical (50%) HP:0000402
42 wide nasal bridge typical (50%) HP:0000431
43 convex nasal ridge typical (50%) HP:0000444
44 strabismus typical (50%) HP:0000486
45 ptosis typical (50%) HP:0000508
46 rieger anomaly typical (50%) HP:0000558
47 iris coloboma typical (50%) HP:0000612
48 nystagmus typical (50%) HP:0000639
49 optic atrophy typical (50%) HP:0000648
50 hypodontia typical (50%) HP:0000668
51 congenital diaphragmatic hernia typical (50%) HP:0000776
52 sacral dimple typical (50%) HP:0000960
53 arachnodactyly typical (50%) HP:0001166
54 preaxial hand polydactyly typical (50%) HP:0001177
55 calvarial skull defect typical (50%) HP:0001362
56 atria septal defect typical (50%) HP:0001631
57 abnormality of the heart valves typical (50%) HP:0001654
58 prominent glabella typical (50%) HP:0002057
59 highly arched eyebrow typical (50%) HP:0002553
60 scoliosis typical (50%) HP:0002650
61 downturned corners of mouth typical (50%) HP:0002714
62 delayed skeletal maturation typical (50%) HP:0002750
63 kyphosis typical (50%) HP:0002808
64 abnormal form of the vertebral bodies typical (50%) HP:0003312
65 preauricular pit typical (50%) HP:0004467
66 craniofacial asymmetry typical (50%) HP:0004484
67 aplasia/hypoplasia of the lungs typical (50%) HP:0006703
68 conductive hearing impairment 40% HP:0000405
69 proptosis frequent (33%) HP:0000520
70 stereotypy frequent (33%) HP:0000733
71 rib fusion frequent (33%) HP:0000902
72 hemangioma frequent (33%) HP:0001028
73 talipes equinovarus frequent (33%) HP:0001762
74 scoliosis frequent (33%) HP:0002650
75 kyphosis frequent (33%) HP:0002808
76 abnormal form of the vertebral bodies frequent (33%) HP:0003312
77 rib segmentation abnormalities frequent (33%) HP:0006655
78 iris coloboma 30% HP:0000612
79 atria septal defect 27% HP:0001631
80 sensorineural hearing impairment 15% HP:0000407
81 cleft palate occasional (7.5%) HP:0000175
82 otitis media occasional (7.5%) HP:0000388
83 megalocornea occasional (7.5%) HP:0000485
84 strabismus occasional (7.5%) HP:0000486
85 retinopathy occasional (7.5%) HP:0000488
86 proptosis occasional (7.5%) HP:0000520
87 nystagmus occasional (7.5%) HP:0000639
88 sclerocornea occasional (7.5%) HP:0000647
89 split hand occasional (7.5%) HP:0001171
90 preaxial hand polydactyly occasional (7.5%) HP:0001177
91 agenesis of corpus callosum occasional (7.5%) HP:0001274
92 hip dysplasia occasional (7.5%) HP:0001385
93 disproportionate tall stature occasional (7.5%) HP:0001519
94 preaxial foot polydactyly occasional (7.5%) HP:0001841
95 recurrent respiratory infections occasional (7.5%) HP:0002205
96 abdominal situs inversus occasional (7.5%) HP:0003363
97 reduced bone mineral density occasional (7.5%) HP:0004349
98 abnormality of the gallbladder occasional (7.5%) HP:0005264
99 aplasia/hypoplasia of the nipples occasional (7.5%) HP:0006709
100 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
101 aplasia cutis congenita of scalp occasional (7.5%) HP:0007385
102 short thumb occasional (7.5%) HP:0009778
103 short hallux occasional (7.5%) HP:0010109
104 abnormality of movement occasional (7.5%) HP:0100022
105 aplasia of the uterus rare (5%) HP:0000151
106 hydrocephalus rare (5%) HP:0000238
107 webbed neck rare (5%) HP:0000465
108 single transverse palmar crease rare (5%) HP:0000954
109 sacral dimple rare (5%) HP:0000960
110 biliary tract abnormality rare (5%) HP:0001080
111 tethered cord rare (5%) HP:0002144
112 microcephaly HP:0000252
113 intellectual disability HP:0001249
114 seizures HP:0001250
115 muscular hypotonia HP:0001252
116 small for gestational age HP:0001518
117 cleft palate HP:0000175
118 cleft upper lip HP:0000204
119 precocious puberty HP:0000826
120 absent septum pellucidum HP:0001331
121 decreased fetal movement HP:0001558
122 ventricular septal defect HP:0001629
123 accessory spleen HP:0001747
124 hyperconvex fingernails HP:0001812
125 metatarsus adductus HP:0001840
126 gastroesophageal reflux HP:0002020
127 ventriculomegaly HP:0002119
128 low posterior hairline HP:0002162
129 cavum septum pellucidum HP:0002389
130 delayed skeletal maturation HP:0002750
131 hip dislocation HP:0002827
132 vertebral fusion HP:0002948
133 radioulnar synostosis HP:0002974
134 malrotation of small bowel HP:0004794
135 periventricular cysts HP:0007109
136 pseudoepiphyses of the metacarpals HP:0009193
137 ectopia pupillae HP:0009918
138 intellectual disability, severe HP:0010864
139 abnormal sternal ossification HP:0011863

UMLS symptoms related to Wolf-Hirschhorn Syndrome:


seizures

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 Syndrome23
2 Pitt-Rogers-Danks Syndrome23

Anatomical Context for Wolf-Hirschhorn Syndrome

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MalaCards organs/tissues related to Wolf-Hirschhorn Syndrome:

34
Heart, Brain, Eye, Bone, Lung, Skin, Uterus

Animal Models for Wolf-Hirschhorn Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Wolf-Hirschhorn Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.7FGFR3, FGFRL1, LETM1, MSX1, WHSC1
2MP:00053867.3CPLX1, FGFR3, FGFRL1, LETM1, MSX1, WFS1
3MP:00107686.9CPLX1, FGFR3, FGFRL1, LETM1, MSX1, WFS1

Publications for Wolf-Hirschhorn Syndrome

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Articles related to Wolf-Hirschhorn Syndrome:

(show top 50)    (show all 226)
idTitleAuthorsYear
1
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
2
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
3
Auditory hair cell defects as potential cause for sensorineural deafness in Wolf-Hirschhorn syndrome. (26092122)
2015
4
LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition. (24626991)
2014
5
A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome. (24243641)
2014
6
Wolf-Hirschhorn syndrome (WHS) - literature review on the features of the syndrome. (24979523)
2014
7
109a88kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome. (23637096)
2013
8
Prenatal ultrasound findings observed in the Wolf-hirschhorn syndrome: Data from the registry of congenital malformations in auvergne. (24343879)
2013
9
Lung tumor-associated dendritic cell-derived resistin promoted cancer progression by increasing Wolf-Hirschhorn syndrome candidate 1/Twist pathway. (23955539)
2013
10
Microarray analysis of unbalanced translocation in Wolf-Hirschhorn syndrome. (23782367)
2013
11
Three patients with Wolf-Hirschhorn syndrome carrying a satellited chromosome 4p. (22641563)
2012
12
Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports. (23227376)
2012
13
Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome. (21792232)
2012
14
Wolf-Hirschhorn syndrome candidate 1 is involved in the cellular response to DNA damage. (21788515)
2011
15
Clinical characterization and proposed mechanism of juvenile glaucoma--a patient with a chromosome 4p deletion, Wolf-Hirschhorn Syndrome. (20569021)
2010
16
Wolf-Hirschhorn syndrome: diagnosis using hand radiograph performed for bone age. (20062983)
2010
17
Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice. (19383940)
2009
18
Tethered cord, corpus callosum abnormalities, and periventricular cysts in Wolf-Hirschhorn syndrome. Report of two cases and review of the literature. (19764025)
2009
19
A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf-Hirschhorn syndrome. (19483677)
2009
20
Wolf-Hirschhorn syndrome; oro-dental manifestations and management. (20297712)
2009
21
On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review. (18932124)
2008
22
A short history of the initial discovery of the Wolf-Hirschhorn syndrome. (18932223)
2008
23
Bilateral microphthalmia with orbital cysts in Wolf-Hirschhorn syndrome. (18551766)
2008
24
Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies. (16470698)
2006
25
Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital diaphragmatic hernia, cystic hygroma and IUGR. (16903248)
2006
26
Oligomeganephronia in Wolf-Hirschhorn Syndrome. (17079842)
2006
27
Ultrasonographic findings of facial dysmorphism in Wolf-Hirschhorn syndrome. (15731989)
2005
28
Physical and developmental phenotype analyses in a boy with Wolf-Hirschhorn syndrome. (15844776)
2005
29
The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case. (15948183)
2005
30
4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype. (15580214)
2004
31
LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein. (14706454)
2004
32
Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map. (15342700)
2004
33
MSX1 gene is deleted in Wolf-Hirschhorn syndrome patients with oligodontia. (14630905)
2003
34
Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion. (10909852)
2000
35
Microdeletion 4p16.3 in three unrelated patients with Wolf-Hirschhorn syndrome. (11173835)
2000
36
"Tandem" duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype. (10069706)
1999
37
Health supervision and anticipatory guidance of individuals with Wolf-Hirschhorn syndrome. (10559766)
1999
38
Management of sleeping problems in Wolf-Hirschhorn syndrome: a case study. (10631921)
1999
39
Identification of a de novo 46, XY,4p+ with incomplete Wolf-Hirschhorn syndrome as 46,XY,der(4)t(4;8)(p16.3;p23.1) (9664215)
1998
40
An unusual chromosome rearrangement in a patient with features of the Wolf-Hirschhorn syndrome. (9584686)
1998
41
A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8) (p16.3;q24.3)pat. (7897631)
1995
42
Molecular characterisation of chromosome 4p deletions resulting in Wolf-Hirschhorn syndrome. (8182713)
1994
43
A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation. (1640422)
1992
44
Molecular definition of the smallest region of deletion overlap in the Wolf-Hirschhorn syndrome. (1379774)
1992
45
Prenatal diagnosis of cystic hygroma and chorioangioma in the Wolf-Hirschhorn syndrome. (2062819)
1991
46
Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. (1746553)
1991
47
Familial Wolf-Hirschhorn syndrome associated with Rieger anomaly of the eye. (2348979)
1990
48
The human homeobox gene HOX7 maps to chromosome 4p16.1 and may be implicated in Wolf-Hirschhorn syndrome. (1969845)
1990
49
Malignant hyperthermia in the Wolf-Hirschhorn syndrome. (2757162)
1989
50
Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome. (2997623)
1985

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
19.9WHSC1, WHSC1L1
29.1CPLX1, MSX1, WFS1

GO Terms for genes affiliated with Wolf-Hirschhorn Syndrome

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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:003424410.1MIR943, NELFA
2positive regulation of viral transcriptionGO:00504349.9MIR943, NELFA
3positive regulation of histone H3-K4 methylationGO:00515719.8MIR943, NELFA
4bone morphogenesisGO:00603499.2FGFR3, MSX1

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

idNameGO IDScoreTop Affiliating Genes
1histone-lysine N-methyltransferase activityGO:00180249.9WHSC1, WHSC1L1
2fibroblast growth factor-activated receptor activityGO:00050079.8FGFR3, FGFRL1
3fibroblast growth factor bindingGO:00171349.3FGFR3, FGFRL1

Sources for Wolf-Hirschhorn Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet