MCID: WLF002
MIFTS: 53

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 49 10 11 68 21 45 22 23 12 36 65
Pitt-Rogers-Danks Syndrome 10 45 22 65
4p- Syndrome 21 22 23
Monosomy 4p 21 22 23
4p Deletion Syndrome 10 23
Wittwer Syndrome 45 65
Pitt Syndrome 10 45
Wolf Syndrome 45 22
Whs 45 23
Prenatal and Postnatal Growth Retardation, Blindness, Hearing Loss, Dysmorphic Features, Epilepsy, Mental Retardation and Absence of Speech 45
Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation 45
Mental Retardation, Unusual Facies, and Intrauterine Growth Retardation 45
 
Chromosome 4p16.3 Deletion Syndrome 10
Chromosome 4 Short Arm Deletion 65
Chromosome 4p Deletion Syndrome 23
Pitt Rogers Danks Syndrome 45
Chromosome 4p Syndrome 45
Chromosome 4p Monosomy 23
Partial Monosomy 4p 23
Distal Deletion 4p 45
Del Syndrome 23
4p Syndrome 45
Wtrs 45
Prds 45

Characteristics:

HPO:

61
wolf-hirschhorn syndrome:
Inheritance: sporadic, autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 194190
Disease Ontology10 DOID:0050460
ICD1027 Q93.3
SNOMED-CT59 17122004
MeSH36 D054877
NCIt42 C35528
UMLS65 C0796117, C1956097, C2931557 C0796202, more

Summaries for Wolf-Hirschhorn Syndrome

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NIH Rare Diseases:45 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 cognitive impairment, high anterior hairline and decreased muscle mass. An important gene associated with Wolf-Hirschhorn Syndrome is WHSC1 (Wolf-Hirschhorn Syndrome Candidate 1), and among its related pathways is Lysine degradation. Affiliated tissues include heart, eye and brain, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Genetics Home Reference:23 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:49 Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency,... (194190) more...

GeneReviews summary for NBK1183

Related Diseases for Wolf-Hirschhorn Syndrome

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Diseases related to Wolf-Hirschhorn Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1chromosome 4p deletion11.7
2wieacker-wolff syndrome11.3
3hypotrichosis 711.1
4x-linked mental retardation type wittwer11.0
5chromosome 18p deletion syndrome10.7
6chromosome 18q deletion syndrome10.7
7chromosome 3p- syndrome10.7
8lung cancer susceptibility 310.5
9cervical squamous cell carcinoma10.5
10dengue disease10.5
11congenital diaphragmatic hernia10.4
12aplasia cutis congenita, nonsyndromic10.3
13malignant hyperthermia10.3
14beckwith-wiedemann syndrome10.3WHSC1, WHSC1L1
15hemangioma10.2
16hypospadias10.2
17ring chromosome 410.2
18split hand10.2
19woolly hair, autosomal dominant10.2
20hypotrichosis 810.1
21obesity10.1
22multiple myeloma10.1
23hepatitis10.1
24hypoplastic left heart syndrome10.1
25lymphoma10.1
26cutaneous t cell lymphoma10.1
27myeloma10.1
28microphthalmia10.1
29juvenile glaucoma10.1
30choroiditis10.1
31hypertrophic cardiomyopathy10.1
32oligohydramnios10.1
33coloboma10.1
34orbital cyst10.1
35status epilepticus10.1
36chorioangioma10.1
37mongolian spot10.1
38adenoma10.1
39cleft lip10.1
40vesicoureteral reflux10.1
41choroid plexus cyst10.1
42growth hormone deficiency10.1
43split hand foot malformation10.1
44cardiomyopathy10.1
45seizure disorder10.1
46renal dysplasia10.1
47chromosome 10q23 deletion syndrome9.9LETM1, NELFA, WHSC1
48chronic inflammation of lacrimal passage9.9WFS1, WHSC1
49overnutrition9.9FGFR3, WHSC1
50smith-lemli-opitz syndrome9.8

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

UMLS symptoms related to Wolf-Hirschhorn Syndrome:


seizures

Drugs & Therapeutics for Wolf-Hirschhorn Syndrome

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Interventional clinical trials:

Search ClinicalTrials, 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 Syndrome22
2 Pitt-Rogers-Danks Syndrome22

Anatomical Context for Wolf-Hirschhorn Syndrome

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MalaCards organs/tissues related to Wolf-Hirschhorn Syndrome:

33
Heart, Eye, Brain, Lung, Bone, Thyroid, Prostate

Animal Models for Wolf-Hirschhorn Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Wolf-Hirschhorn Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.6CPLX1, FGFR3, MSX1, SALL4
2MP:00053828.4FGFR3, FGFRL1, MSX1, SALL4, WHSC1
3MP:00053818.1FGFR3, MSX1, SALL4, WFS1, WHSC1
4MP:00053867.3CPLX1, FGFR3, FGFRL1, MSX1, SALL4, WFS1
5MP:00053786.8CPLX1, FGFR3, FGFRL1, MSX1, SALL4, WFS1
6MP:00107686.7CPLX1, FGFR3, FGFRL1, MSX1, SALL4, WFS1

Publications for Wolf-Hirschhorn Syndrome

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Articles related to Wolf-Hirschhorn Syndrome:

(show top 50)    (show all 225)
idTitleAuthorsYear
1
Successful treatment of migrating partial seizures in Wolf-Hirschhorn syndrome with bromide. (26797656)
2016
2
Wolf-Hirschhorn syndrome: A review and update. (26239400)
2015
3
Atypical Varicella in a Patient With Wolf-Hirschhorn Syndrome. (25673626)
2015
4
Severe short stature and Wolf-Hirschhorn syndrome: response to growth hormone in two cases without growth hormone deficiency. (25988083)
2015
5
LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition. (24626991)
2014
6
A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome. (24243641)
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
Pediatric diagnosis not made until adulthood: a case of Wolf-Hirschhorn syndrome. (23064045)
2013
10
Meier-Gorlin syndrome and Wolf-Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis. (23706772)
2013
11
Wolf-Hirschhorn syndrome: a historical note and comment on an older adult. (24326957)
2013
12
Three patients with Wolf-Hirschhorn syndrome carrying a satellited chromosome 4p. (22641563)
2012
13
Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports. (23227376)
2012
14
Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome. (22328085)
2012
15
Wolf-Hirschhorn syndrome candidate 1 is involved in the cellular response to DNA damage. (21788515)
2011
16
Clinical characterization and proposed mechanism of juvenile glaucoma--a patient with a chromosome 4p deletion, Wolf-Hirschhorn Syndrome. (20569021)
2010
17
Interstitial microdeletion of 4p16.3: contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome. (20358621)
2010
18
Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice. (19383940)
2009
19
Distinctive EEG patterns in patients with Wolf-Hirschhorn syndrome. (19388145)
2009
20
On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review. (18932124)
2008
21
Prenatal diagnosis of concomitant Wolf-Hirschhorn syndrome and split hand-foot malformation associated with partial monosomy 4p (4p16.1-->pter) and partial trisomy 10q (10q25.1-->qter). (18395879)
2008
22
A short history of the initial discovery of the Wolf-Hirschhorn syndrome. (18932223)
2008
23
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16. (17676343)
2007
24
Microarray-based comparative genomic hybridization analysis of Wolf-Hirschhorn syndrome in a fetus with deletion of 4p15.3 to 4pter. (17022067)
2006
25
Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies. (16470698)
2006
26
Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital diaphragmatic hernia, cystic hygroma and IUGR. (16903248)
2006
27
Ultrasonographic findings of facial dysmorphism in Wolf-Hirschhorn syndrome. (15731989)
2005
28
4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype. (15580214)
2004
29
LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein. (14706454)
2004
30
A study of EEG and epilepsy profile in Wolf-Hirschhorn syndrome and considerations regarding its correlation with other chromosomal disorders. (12767462)
2003
31
Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital hypospadias and foot deformity. (12546710)
2003
32
An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality. (11584045)
2001
33
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
34
Microdeletion 4p16.3 in three unrelated patients with Wolf-Hirschhorn syndrome. (11173835)
2000
35
"Tandem" duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype. (10069706)
1999
36
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
37
An unusual chromosome rearrangement in a patient with features of the Wolf-Hirschhorn syndrome. (9584686)
1998
38
Wolf-Hirschhorn syndrome and Pitt-Rogers-Danks syndrome. (9489803)
1998
39
A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. (9063753)
1997
40
On two patients with and without the classical Wolf-Hirschhorn syndrome (WHS) sharing the same chromosome 4p16.3 specific probe deletion: evidence of a contiguous gene deletion syndrome. (8891381)
1996
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
Molecular detection of a 4p deletion using PCR-based polymorphisms: a technique for the rapid detection of the Wolf-Hirschhorn syndrome. (1442886)
1992
46
Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome. (1552546)
1992
47
Prenatal diagnosis of cystic hygroma and chorioangioma in the Wolf-Hirschhorn syndrome. (2062819)
1991
48
Familial Wolf-Hirschhorn syndrome associated with Rieger anomaly of the eye. (2348979)
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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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

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
1chromatin organizationGO:000632510.0WHSC1, WHSC1L1
2protein stabilizationGO:00508219.3MSX1, WFS1
3bone morphogenesisGO:00603499.3FGFR3, MSX1
4negative regulation of transcription from RNA polymerase II promoterGO:00001228.5MSX1, SALL4, WFS1, WHSC1

Sources for Wolf-Hirschhorn Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet