MCID: WLL012
MIFTS: 25

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 high palate

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 12.1
2 7q11.23 duplication syndrome 11.7

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
GenitourinaryInternal GenitaliaMale:
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 104)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 Frequent (79-30%) HP:0000256
2 high palate 59 32 Frequent (79-30%) HP:0000218
3 hydrocephalus 59 32 Very rare (<4-1%) HP:0000238
4 seizures 59 32 Occasional (29-5%) HP:0001250
5 chronic otitis media 59 32 Occasional (29-5%) HP:0000389
6 short stature 59 32 Occasional (29-5%) HP:0004322
7 brachycephaly 59 32 Frequent (79-30%) HP:0000248
8 micrognathia 59 32 Frequent (79-30%) HP:0000347
9 patent ductus arteriosus 59 32 Occasional (29-5%) HP:0001643
10 cryptorchidism 59 32 Occasional (29-5%) HP:0000028
11 anxiety 59 32 Frequent (79-30%) HP:0000739
12 ventriculomegaly 59 32 Frequent (79-30%) HP:0002119
13 broad forehead 59 32 Frequent (79-30%) HP:0000337
14 short philtrum 59 32 Frequent (79-30%) HP:0000322
15 broad nasal tip 59 32 Frequent (79-30%) HP:0000455
16 overfolded helix 59 32 Occasional (29-5%) HP:0000396
17 high forehead 59 32 Occasional (29-5%) HP:0000348
18 long eyelashes 59 32 Frequent (79-30%) HP:0000527
19 hydronephrosis 59 32 Very rare (<4-1%) HP:0000126
20 cutis marmorata 59 32 Occasional (29-5%) HP:0000965
21 unilateral renal agenesis 59 32 Very rare (<4-1%) HP:0000122
22 horizontal eyebrow 59 32 Occasional (29-5%) HP:0011228
23 chronic constipation 59 32 Frequent (79-30%) HP:0012450
24 diastema 59 32 Frequent (79-30%) HP:0000699
25 hypertelorism 59 Occasional (29-5%)
26 short neck 59 Very rare (<4-1%)
27 pectus excavatum 59 Very rare (<4-1%)
28 obesity 59 Occasional (29-5%)
29 muscular hypotonia 32 HP:0001252
30 gait disturbance 32 HP:0001288
31 sleep disturbance 59 Occasional (29-5%)
32 self-injurious behavior 59 Very rare (<4-1%)
33 inguinal hernia 59 Occasional (29-5%)
34 hearing impairment 59 Very rare (<4-1%)
35 dental malocclusion 59 Frequent (79-30%)
36 global developmental delay 32 HP:0001263
37 delayed speech and language development 59 Very frequent (99-80%)
38 pes planus 59 Very rare (<4-1%)
39 abnormal facial shape 59 Frequent (79-30%)
40 stereotypy 59 Occasional (29-5%)
41 intellectual disability, mild 59 Frequent (79-30%)
42 intellectual disability, severe 59 Occasional (29-5%)
43 retrognathia 59 Frequent (79-30%)
44 strabismus 59 Very rare (<4-1%)
45 dolichocephaly 59 Frequent (79-30%)
46 attention deficit hyperactivity disorder 32 HP:0007018
47 growth delay 59 Occasional (29-5%)
48 cubitus valgus 59 Very rare (<4-1%)
49 atrial septal defect 59 Very rare (<4-1%)
50 dysmetria 59 Frequent (79-30%)

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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