MCID: WLL012
MIFTS: 27

Williams-Beuren Region Duplication Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Williams-Beuren Region Duplication Syndrome

MalaCards integrated aliases for Williams-Beuren Region Duplication Syndrome:

Name: Williams-Beuren Region Duplication Syndrome 57 29 73
Chromosome 7q11.23 Duplication Syndrome 57 13
7q11.23 Microduplication Syndrome 59
Somerville-Van Der Aa Syndrome 57
Wbs Duplication Syndrome 57
Trisomy 7q11.23 59
Dup(7)(q11.23) 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene deletion syndrome
estimated population frequency of 1 in 13,000-20,000
based on review of 53 individuals aged 1.2-21.25 years and 11 affected adults (last curated february 2016)


HPO:

32
williams-beuren region duplication syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Williams-Beuren Region Duplication Syndrome

OMIM : 57 The chromosome 7q11.23 duplication syndrome is a multisystem developmental disorder with variable manifestations, most commonly speech delay and mild craniofacial anomalies, and an increased incidence of congenital anomalies such as heart defects, diaphragmatic hernia, and cryptorchidism. Many patients have cognitive defects ranging from mental retardation to autism, although some have normal cognitive abilities (summary by Van der Aa et al., 2009). (609757)

MalaCards based summary : Williams-Beuren Region Duplication Syndrome, also known as chromosome 7q11.23 duplication syndrome, is related to distal 7q11.23 microduplication syndrome and 7q11.23 duplication syndrome. An important gene associated with Williams-Beuren Region Duplication Syndrome is DUP7Q11.23 (Chromosome 7q11.23 Duplication Syndrome). Affiliated tissues include heart, eye and uterus, and related phenotypes are macrocephaly and hypertelorism

Related Diseases for Williams-Beuren Region Duplication Syndrome

Diseases related to Williams-Beuren Region Duplication Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 distal 7q11.23 microduplication syndrome 12.3
2 7q11.23 duplication syndrome 11.8

Symptoms & Phenotypes for Williams-Beuren Region Duplication Syndrome

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ventriculomegaly
cerebellar vermis hypoplasia
developmental delay
thin corpus callosum
posterior fossa cysts
more
Genitourinary Internal Genitalia Male:
cryptorchidism (rare)

Head And Neck Head:
macrocephaly (50%)
brachycephaly (65%)
normal cranial shape (27%)

Head And Neck Ears:
normal ears (38%)
overfolded helix (42%)
lateral protrusion (17%)
posterior rotation (10%)
chronic otitis media (25%)

Head And Neck Nose:
broad nasal tip (77%)
columella abnormalities (78%)

Head And Neck Teeth:
diastema (31%)

Abdomen Gastrointestinal:
chronic constipation (66%)

Skin Nails Hair Skin:
cutis marmorata (45%)

Endocrine Features:
growth hormone deficiency (9%)

Genitourinary Kidneys:
hydronephrosis (rare)
unilateral renal agenesis (rare)

Growth Height:
short stature (17%)

Head And Neck Face:
broad forehead (63%)
high forehead (20%)
facial asymmetry (84%)
short philtrum (58%)

Head And Neck Eyes:
straight eyebrows (20%)
deep-set eyes (45%)
long eyelashes (45%)

Head And Neck Mouth:
micrognathia (30%)
high-arched palate (44%)

Cardiovascular Vascular:
patent ductus arteriosus (15%)
aortic dilation (46%)

Genitourinary Internal Genitalia Female:
mullerian agenesis (rare)

Neurologic Behavioral Psychiatric Manifestations:
anxiety (72%)
attention deficit hyperactivity disorder (adhd, 37%)
autism spectrum disorder (asd, 19%)
high pain tolerance (26%)


Clinical features from OMIM:

609757

Human phenotypes related to Williams-Beuren Region Duplication Syndrome:

59 32 (show top 50) (show all 105)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
2 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
3 short neck 59 32 very rare (1%) Very rare (<4-1%) HP:0000470
4 pectus excavatum 59 32 very rare (1%) Very rare (<4-1%) HP:0000767
5 obesity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001513
6 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
7 hydrocephalus 59 32 very rare (1%) Very rare (<4-1%) HP:0000238
8 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
9 sleep disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0002360
10 self-injurious behavior 59 32 very rare (1%) Very rare (<4-1%) HP:0100716
11 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
12 hearing impairment 59 32 very rare (1%) Very rare (<4-1%) HP:0000365
13 chronic otitis media 59 32 occasional (7.5%) Occasional (29-5%) HP:0000389
14 dental malocclusion 59 32 frequent (33%) Frequent (79-30%) HP:0000689
15 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
16 pes planus 59 32 very rare (1%) Very rare (<4-1%) HP:0001763
17 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
18 stereotypy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000733
19 intellectual disability, mild 59 32 frequent (33%) Frequent (79-30%) HP:0001256
20 brachycephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000248
21 intellectual disability, severe 59 32 occasional (7.5%) Occasional (29-5%) HP:0010864
22 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
23 retrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000278
24 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
25 dolichocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000268
26 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
27 cubitus valgus 59 32 very rare (1%) Very rare (<4-1%) HP:0002967
28 anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000739
29 atrial septal defect 59 32 very rare (1%) Very rare (<4-1%) HP:0001631
30 dysmetria 59 32 frequent (33%) Frequent (79-30%) HP:0001310
31 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
32 motor delay 59 32 frequent (33%) Frequent (79-30%) HP:0001270
33 broad forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000337
34 cerebellar hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001321
35 intellectual disability, moderate 59 32 frequent (33%) Frequent (79-30%) HP:0002342
36 short philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000322
37 hypospadias 59 32 very rare (1%) Very rare (<4-1%) HP:0000047
38 deeply set eye 59 32 frequent (33%) Frequent (79-30%) HP:0000490
39 impaired social interactions 59 32 occasional (7.5%) Occasional (29-5%) HP:0000735
40 aggressive behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0000718
41 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
42 joint hypermobility 59 32 occasional (7.5%) Occasional (29-5%) HP:0001382
43 round face 59 32 very rare (1%) Very rare (<4-1%) HP:0000311
44 broad nasal tip 59 32 frequent (33%) Frequent (79-30%) HP:0000455
45 overfolded helix 59 32 occasional (7.5%) Occasional (29-5%) HP:0000396
46 ventricular septal defect 59 32 very rare (1%) Very rare (<4-1%) HP:0001629
47 thin upper lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000219
48 high forehead 59 32 occasional (7.5%) Occasional (29-5%) HP:0000348
49 sacral dimple 59 32 very rare (1%) Very rare (<4-1%) HP:0000960
50 craniosynostosis 59 32 frequent (33%) Frequent (79-30%) HP:0001363

Drugs & Therapeutics for Williams-Beuren Region Duplication Syndrome

Search Clinical Trials , NIH Clinical Center for Williams-Beuren Region Duplication Syndrome

Genetic Tests for Williams-Beuren Region Duplication Syndrome

Genetic tests related to Williams-Beuren Region Duplication Syndrome:

# Genetic test Affiliating Genes
1 Williams-Beuren Region Duplication Syndrome 29

Anatomical Context for Williams-Beuren Region Duplication Syndrome

MalaCards organs/tissues related to Williams-Beuren Region Duplication Syndrome:

41
Heart, Eye, Uterus

Publications for Williams-Beuren Region Duplication Syndrome

Articles related to Williams-Beuren Region Duplication Syndrome:

# Title Authors Year
1
Chromosome 7q11.23 duplication syndrome presenting as neuropsychiatric regression in late adolescence: A new manifestation of a new syndrome? ( 29466866 )
2018

Variations for Williams-Beuren Region Duplication Syndrome

Expression for Williams-Beuren Region Duplication Syndrome

Search GEO for disease gene expression data for Williams-Beuren Region Duplication Syndrome.

Pathways for Williams-Beuren Region Duplication Syndrome

GO Terms for Williams-Beuren Region Duplication Syndrome

Sources for Williams-Beuren Region Duplication Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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