MCID: WLL012
MIFTS: 26

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 58 30 74
Chromosome 7q11.23 Duplication Syndrome 58 13
7q11.23 Microduplication Syndrome 60
Somerville-Van Der Aa Syndrome 58
Wbs Duplication Syndrome 58
Trisomy 7q11.23 60
Dup(7)(q11.23) 60

Characteristics:

OMIM:

58
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:

33
williams-beuren region duplication syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Williams-Beuren Region Duplication Syndrome

OMIM : 58 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 eye and uterus, and related phenotypes are delayed speech and language development and macrocephaly

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 11.9

Symptoms & Phenotypes for Williams-Beuren Region Duplication Syndrome

Human phenotypes related to Williams-Beuren Region Duplication Syndrome:

60 33 (show top 50) (show all 106)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed speech and language development 60 33 hallmark (90%) Very frequent (99-80%) HP:0000750
2 macrocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000256
3 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
4 dental malocclusion 60 33 frequent (33%) Frequent (79-30%) HP:0000689
5 intellectual disability, mild 60 33 frequent (33%) Frequent (79-30%) HP:0001256
6 brachycephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000248
7 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
8 retrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000278
9 dolichocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000268
10 anxiety 60 33 frequent (33%) Frequent (79-30%) HP:0000739
11 dysmetria 60 33 frequent (33%) Frequent (79-30%) HP:0001310
12 ventriculomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002119
13 motor delay 60 33 frequent (33%) Frequent (79-30%) HP:0001270
14 broad forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000337
15 cerebellar hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0001321
16 intellectual disability, moderate 60 33 frequent (33%) Frequent (79-30%) HP:0002342
17 short philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000322
18 deeply set eye 60 33 frequent (33%) Frequent (79-30%) HP:0000490
19 low-set, posteriorly rotated ears 60 33 frequent (33%) Frequent (79-30%) HP:0000368
20 broad nasal tip 60 33 frequent (33%) Frequent (79-30%) HP:0000455
21 thin upper lip vermilion 60 33 frequent (33%) Frequent (79-30%) HP:0000219
22 craniosynostosis 60 33 frequent (33%) Frequent (79-30%) HP:0001363
23 long eyelashes 60 33 frequent (33%) Frequent (79-30%) HP:0000527
24 congenital diaphragmatic hernia 60 33 frequent (33%) Frequent (79-30%) HP:0000776
25 generalized hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001290
26 hyperactivity 60 33 frequent (33%) Frequent (79-30%) HP:0000752
27 single transverse palmar crease 60 33 frequent (33%) Frequent (79-30%) HP:0000954
28 unsteady gait 60 33 frequent (33%) Frequent (79-30%) HP:0002317
29 abnormality of the columella 60 33 frequent (33%) Frequent (79-30%) HP:0009929
30 chronic constipation 60 33 frequent (33%) Frequent (79-30%) HP:0012450
31 diastema 60 33 frequent (33%) Frequent (79-30%) HP:0000699
32 aortic aneurysm 33 frequent (33%) HP:0004942
33 simplified gyral pattern 33 frequent (33%) HP:0009879
34 hypertelorism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000316
35 obesity 60 33 occasional (7.5%) Occasional (29-5%) HP:0001513
36 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
37 sleep disturbance 60 33 occasional (7.5%) Occasional (29-5%) HP:0002360
38 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000023
39 chronic otitis media 60 33 occasional (7.5%) Occasional (29-5%) HP:0000389
40 short stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0004322
41 stereotypy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000733
42 intellectual disability, severe 60 33 occasional (7.5%) Occasional (29-5%) HP:0010864
43 patent ductus arteriosus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001643
44 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
45 impaired social interactions 60 33 occasional (7.5%) Occasional (29-5%) HP:0000735
46 aggressive behavior 60 33 occasional (7.5%) Occasional (29-5%) HP:0000718
47 joint hypermobility 60 33 occasional (7.5%) Occasional (29-5%) HP:0001382
48 overfolded helix 60 33 occasional (7.5%) Occasional (29-5%) HP:0000396
49 high forehead 60 33 occasional (7.5%) Occasional (29-5%) HP:0000348
50 polyphagia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002591

Symptoms via clinical synopsis from OMIM:

58
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

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 30

Anatomical Context for Williams-Beuren Region Duplication Syndrome

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

42
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 EFO
18 ExPASy
20 FMA
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31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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45 MeSH
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55 NINDS
56 Novoseek
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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