WHS
MCID: WLF002
MIFTS: 61

Wolf-Hirschhorn Syndrome (WHS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Ear diseases, Fetal diseases categories
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Summaries for Wolf-Hirschhorn Syndrome

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NIH Rare Diseases:42 Wolf-hirschhorn syndrome is a genetic 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. wolf-hirschhorn syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4. this chromosomal change is sometimes written as 4p-. the size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and physical abnormalities than smaller deletions. most cases of this disorder are not inherited, although sometimes wolf-hirschhorn syndrome is inherited from an unaffected parent. last updated: 5/5/2009

MalaCards based summary: Wolf-Hirschhorn Syndrome, also known as pitt-rogers-danks syndrome, is related to chromosome 4p deletion and congenital diaphragmatic hernia, and has symptoms including microcephaly, dolichocephaly/scaphocephaly and frontal bossing/prominent forehead. An important gene associated with Wolf-Hirschhorn Syndrome is NELFA (negative elongation factor complex member A), and among its related pathways are Formation of RNA Pol II elongation complex and Lysine degradation. The compounds s-adenosylmethionine and l-lysine have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and testes, and related mouse phenotypes are skeleton and craniofacial.

Genetics Home Reference:21 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.

Description from OMIM:46 194190

GeneReviews summary for whs

Aliases & Classifications for Wolf-Hirschhorn Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 62UMLS, 65Wikipedia, 20GeneTests, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
See all sources

Wolf-Hirschhorn Syndrome, Aliases & Descriptions:

Name: Wolf-Hirschhorn Syndrome 8 9 19 42 21 46 10 48 62
Pitt-Rogers-Danks Syndrome 8 42 48 62
4p- Syndrome 19 21 48
Chromosome 4p16.3 Deletion Syndrome 8 62
Chromosome 4p Deletion Syndrome 21 62
Wolf–hirschhorn Syndrome 65 20
Pitt Rogers Danks Syndrome 42 20
Chromosome 4p Monosomy 21 62
4p Deletion Syndrome 8 21
Partial Monosomy 4p 21 62
Distal Deletion 4p 42 48
Pitt Syndrome 8 42
Monosomy 4p 19 21
 
Whs 42 21
Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation 42
Mental Retardation, Unusual Facies, and Intrauterine Growth Retardation 42
Intellectual Disability - Dysmorphism - Intrauterine Growth Retardation 48
Chromosome 4 Short Arm Deletion 62
Chromosome 4p Syndrome 42
Telomeric Deletion 4p 48
Distal Monosomy 4p 48
Del Syndrome 21
Wolf Syndrome 42
4p Syndrome 42
Prds 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
wolf-hirschhorn syndrome:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Adult


External Ids:

Disease Ontology8 DOID:0050460
MeSH34 D054877
OMIM46 194190
MESH via Orphanet35 C536740, D054877
ICD10 via Orphanet26 Q93.3
UMLS via Orphanet63 C1956097, C0796117
ICD1025 Q93.3

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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Clinical features from OMIM:

194190

Symptoms:

48 (show all 79)
  • microcephaly
  • dolichocephaly/scaphocephaly
  • frontal bossing/prominent forehead
  • high forehead
  • hypertelorism
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • micrognathia/retrognathia/micrognathism/retrognathism
  • high arched eyebrows
  • epicanthic folds
  • broad nose/nasal bridge
  • anomalies of mouth, lip and philtrum
  • downturned mouth
  • short philtrum
  • anodontia/oligodontia/hypodontia
  • low set ears/posteriorly rotated ears
  • microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
  • high hair line (front)/widow peak
  • hypospadias/epispadias/bent penis
  • ataxia/incoordination/trouble of the equilibrium
  • hypotonia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • insterstitial/subtelomeric microdeletion/deletion
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • fetal immobility/abnormal fetal movements
  • intrauterine growth retardation
  • scalp/skull defect
  • coloboma of iris
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • ptosis
  • cleft lip and palate
  • hearing loss/hypoacusia/deafness
  • anomalies of chest/thorax/trunk
  • rib number anomalies
  • anomalies of spine, vertebrae and pelvis
  • kyphosis
  • scoliosis
  • abnormal vertebral size/shape
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • sacral sinus/dimple
  • anomalies of hands
  • long hand/arachnodactyly
  • thumb hypoplasia/aplasia/absence
  • thumb duplication/distal bifid thumb phalangeal bone
  • talipes-varus/metatarsal varus
  • foot anomalies
  • big toe anomaly (excluding absence)
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • diaphragmatic hernia/defect/agenesis
  • cardiac valvulopathy
  • congenital cardiac anomaly/malformation/cardiopathy
  • cardiac septal defect
  • atrial septal defect/interauricular communication
  • renal/kidney anomalies
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • delayed bone age
  • proptosis/exophthalmos
  • megalocornea
  • sclerocornea
  • retinopathy
  • strabismus/squint
  • nystagmus
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • chronic/relapsing otitis
  • hypoplastic/absent nipples
  • herniae
  • long limbs/dolichostenomelia
  • situs inversus visceralis/colon/intestine trasposition/heterotaxia
  • gallbladder/common bile duct anomalies
  • repeat respiratory infections
  • structural anomalies of the kidney and the urinary tract
  • structural anomalies of the genital system
  • corpus callosum/septum pellucidum total/partial agenesis
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • movement disorder
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • anomalies of the immunitary system
  • stillbirth/neonatal death

HPO human phenotypes related to Wolf-Hirschhorn Syndrome:

(show all 67)
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 abnormality of the nose hallmark (90%) HP:0000366
9 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
10 downslanted palpebral fissures hallmark (90%) HP:0000494
11 seizures hallmark (90%) HP:0001250
12 muscular hypotonia hallmark (90%) HP:0001252
13 intrauterine growth retardation hallmark (90%) HP:0001511
14 prenatal movement abnormality hallmark (90%) HP:0001557
15 frontal bossing hallmark (90%) HP:0002007
16 incoordination hallmark (90%) HP:0002311
17 highly arched eyebrow hallmark (90%) HP:0002553
18 downturned corners of mouth hallmark (90%) HP:0002714
19 reduced number of teeth hallmark (90%) HP:0009804
20 high anterior hairline hallmark (90%) HP:0009890
21 cognitive impairment hallmark (90%) HP:0100543
22 displacement of the external urethral meatus hallmark (90%) HP:0100627
23 cryptorchidism typical (50%) HP:0000028
24 abnormality of the kidney typical (50%) HP:0000077
25 hearing impairment typical (50%) HP:0000365
26 ptosis typical (50%) HP:0000508
27 iris coloboma typical (50%) HP:0000612
28 optic atrophy typical (50%) HP:0000648
29 abnormality of the ribs typical (50%) HP:0000772
30 congenital diaphragmatic hernia typical (50%) HP:0000776
31 sacral dimple typical (50%) HP:0000960
32 arachnodactyly typical (50%) HP:0001166
33 preaxial hand polydactyly typical (50%) HP:0001177
34 skull defect typical (50%) HP:0001362
35 defect in the atrial septum typical (50%) HP:0001631
36 abnormality of the heart valves typical (50%) HP:0001654
37 abnormality of the hallux typical (50%) HP:0001844
38 talipes typical (50%) HP:0001883
39 abnormality of pelvic girdle bone morphology typical (50%) HP:0002644
40 scoliosis typical (50%) HP:0002650
41 delayed skeletal maturation typical (50%) HP:0002750
42 kyphosis typical (50%) HP:0002808
43 abnormal form of the vertebral bodies typical (50%) HP:0003312
44 aplasia/hypoplasia of the lungs typical (50%) HP:0006703
45 aplasia/hypoplasia of the thumb typical (50%) HP:0009601
46 cleft palate occasional (7.5%) HP:0000175
47 otitis media occasional (7.5%) HP:0000388
48 megalocornea occasional (7.5%) HP:0000485
49 strabismus occasional (7.5%) HP:0000486
50 retinopathy occasional (7.5%) HP:0000488
51 proptosis occasional (7.5%) HP:0000520
52 nystagmus occasional (7.5%) HP:0000639
53 sclerocornea occasional (7.5%) HP:0000647
54 disproportionate tall stature occasional (7.5%) HP:0001519
55 recurrent respiratory infections occasional (7.5%) HP:0002205
56 abdominal situs inversus occasional (7.5%) HP:0003363
57 reduced bone mineral density occasional (7.5%) HP:0004349
58 abnormality of the gallbladder occasional (7.5%) HP:0005264
59 aplasia/hypoplasia of the nipples occasional (7.5%) HP:0006709
60 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
61 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
62 abnormality of movement occasional (7.5%) HP:0100022
63 microcephaly HP:0000252
64 intellectual disability HP:0001249
65 seizures HP:0001250
66 muscular hypotonia HP:0001252
67 small for gestational age HP:0001518

Drugs & Therapeutics for Wolf-Hirschhorn Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for 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 Syndrome20
2 Pitt-Rogers-Danks Syndrome20

Anatomical Context for Wolf-Hirschhorn Syndrome

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MalaCards organs/tissues related to Wolf-Hirschhorn Syndrome:

32
Bone, Kidney, Testes, Eye, Lung, Cerebellum, Colon, Brain, Heart, T cells

Animal Models for Wolf-Hirschhorn Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Wolf-Hirschhorn Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.9FGFRL1, WHSC1, MSX1, SALL4
2MP:00053828.6FGFRL1, WHSC1, MSX1, SALL4

Publications for Wolf-Hirschhorn Syndrome

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Articles related to Wolf-Hirschhorn Syndrome:

(show top 50)    (show all 214)
idTitleAuthorsYear
1
LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition. (24626991)
2014
2
A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome. (24243641)
2014
3
109a88kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome. (23637096)
2013
4
Prenatal ultrasound findings observed in the Wolf-hirschhorn syndrome: Data from the registry of congenital malformations in auvergne. (24343879)
2013
5
Pediatric diagnosis not made until adulthood: a case of Wolf-Hirschhorn syndrome. (23064045)
2013
6
Meier-Gorlin syndrome and Wolf-Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis. (23706772)
2013
7
Wolf-Hirschhorn syndrome: a historical note and comment on an older adult. (24326957)
2013
8
Lung tumor-associated dendritic cell-derived resistin promoted cancer progression by increasing Wolf-Hirschhorn syndrome candidate 1/Twist pathway. (23955539)
2013
9
Three patients with Wolf-Hirschhorn syndrome carrying a satellited chromosome 4p. (22641563)
2012
10
Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports. (23227376)
2012
11
Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome. (22328085)
2012
12
Wolf-Hirschhorn syndrome candidate 1 is involved in the cellular response to DNA damage. (21788515)
2011
13
Epilepsy in a child with Wolf-Hirschhorn syndrome. (22338478)
2011
14
Clinical characterization and proposed mechanism of juvenile glaucoma--a patient with a chromosome 4p deletion, Wolf-Hirschhorn Syndrome. (20569021)
2010
15
Interstitial microdeletion of 4p16.3: contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome. (20358621)
2010
16
Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice. (19383940)
2009
17
Distinctive EEG patterns in patients with Wolf-Hirschhorn syndrome. (19388145)
2009
18
On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review. (18932124)
2008
19
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
20
A short history of the initial discovery of the Wolf-Hirschhorn syndrome. (18932223)
2008
21
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16. (17676343)
2007
22
Microarray-based comparative genomic hybridization analysis of Wolf-Hirschhorn syndrome in a fetus with deletion of 4p15.3 to 4pter. (17022067)
2006
23
Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies. (16470698)
2006
24
Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital diaphragmatic hernia, cystic hygroma and IUGR. (16903248)
2006
25
Oligomeganephronia in Wolf-Hirschhorn Syndrome. (17079842)
2006
26
Ultrasonographic findings of facial dysmorphism in Wolf-Hirschhorn syndrome. (15731989)
2005
27
4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype. (15580214)
2004
28
LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein. (14706454)
2004
29
A study of EEG and epilepsy profile in Wolf-Hirschhorn syndrome and considerations regarding its correlation with other chromosomal disorders. (12767462)
2003
30
Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital hypospadias and foot deformity. (12546710)
2003
31
An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality. (11584045)
2001
32
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
33
Microdeletion 4p16.3 in three unrelated patients with Wolf-Hirschhorn syndrome. (11173835)
2000
34
"Tandem" duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype. (10069706)
1999
35
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
36
An unusual chromosome rearrangement in a patient with features of the Wolf-Hirschhorn syndrome. (9584686)
1998
37
Wolf-Hirschhorn syndrome and Pitt-Rogers-Danks syndrome. (9489803)
1998
38
A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. (9063753)
1997
39
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
40
A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8) (p16.3;q24.3)pat. (7897631)
1995
41
Molecular characterisation of chromosome 4p deletions resulting in Wolf-Hirschhorn syndrome. (8182713)
1994
42
A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation. (1640422)
1992
43
Molecular definition of the smallest region of deletion overlap in the Wolf-Hirschhorn syndrome. (1379774)
1992
44
Molecular detection of a 4p deletion using PCR-based polymorphisms: a technique for the rapid detection of the Wolf-Hirschhorn syndrome. (1442886)
1992
45
Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome. (1552546)
1992
46
Prenatal diagnosis of cystic hygroma and chorioangioma in the Wolf-Hirschhorn syndrome. (2062819)
1991
47
Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. (1746553)
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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Expression patterns in normal tissues for genes affiliated with Wolf-Hirschhorn Syndrome

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Pathways for genes affiliated with Wolf-Hirschhorn Syndrome

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Compounds for genes affiliated with Wolf-Hirschhorn Syndrome

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR
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Compounds related to Wolf-Hirschhorn Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1s-adenosylmethionine44 24 1111.5WHSC1L1, WHSC1
2l-lysine28 24 1111.4WHSC1L1, WHSC1
3s-adenosylhomocysteine44 2410.2WHSC1L1, WHSC1

GO Terms for genes affiliated with Wolf-Hirschhorn Syndrome

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Cellular components related to Wolf-Hirschhorn Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chromosomeGO:0056949.2WHSC1L1, WHSC1
2nucleusGO:0056348.0SLBP, WHSC1L1, WHSC1, MSX1, SALL4, NELFA

Biological processes related to Wolf-Hirschhorn Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of transcription from RNA polymerase II promoterGO:0001229.4WHSC1, MSX1, SALL4

Molecular functions related to Wolf-Hirschhorn Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1histone-lysine N-methyltransferase activityGO:0180249.5WHSC1L1, WHSC1

Products for genes affiliated with Wolf-Hirschhorn Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Wolf-Hirschhorn Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet