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 53 28 69
Chromosome 7q11.23 Duplication Syndrome 53 13
7q11.23 Microduplication Syndrome 55
Somerville-Van Der Aa Syndrome 53
Wbs Duplication Syndrome 53
Trisomy 7q11.23 55
Dup(7)(q11.23) 55

Characteristics:

OMIM:

53
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:

31
williams-beuren region duplication syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Williams-Beuren Region Duplication Syndrome

OMIM : 53 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, and has symptoms including seizures, chronic constipation and macrocephaly. 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.

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:

53
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 Gastroin testinal:
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:

55 31 (show top 50) (show all 104)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 Occasional (29-5%) HP:0001250
2 chronic constipation 55 31 Frequent (79-30%) HP:0012450
3 macrocephaly 55 31 Frequent (79-30%) HP:0000256
4 high palate 55 31 Frequent (79-30%) HP:0000218
5 hydrocephalus 55 31 Very rare (<4-1%) HP:0000238
6 chronic otitis media 55 31 Occasional (29-5%) HP:0000389
7 short stature 55 31 Occasional (29-5%) HP:0004322
8 brachycephaly 55 31 Frequent (79-30%) HP:0000248
9 micrognathia 55 31 Frequent (79-30%) HP:0000347
10 patent ductus arteriosus 55 31 Occasional (29-5%) HP:0001643
11 cryptorchidism 55 31 Occasional (29-5%) HP:0000028
12 anxiety 55 31 Frequent (79-30%) HP:0000739
13 ventriculomegaly 55 31 Frequent (79-30%) HP:0002119
14 broad forehead 55 31 Frequent (79-30%) HP:0000337
15 short philtrum 55 31 Frequent (79-30%) HP:0000322
16 broad nasal tip 55 31 Frequent (79-30%) HP:0000455
17 overfolded helix 55 31 Occasional (29-5%) HP:0000396
18 high forehead 55 31 Occasional (29-5%) HP:0000348
19 long eyelashes 55 31 Frequent (79-30%) HP:0000527
20 hydronephrosis 55 31 Very rare (<4-1%) HP:0000126
21 cutis marmorata 55 31 Occasional (29-5%) HP:0000965
22 unilateral renal agenesis 55 31 Very rare (<4-1%) HP:0000122
23 horizontal eyebrow 55 31 Occasional (29-5%) HP:0011228
24 diastema 55 31 Frequent (79-30%) HP:0000699
25 hypertelorism 55 Occasional (29-5%)
26 short neck 55 Very rare (<4-1%)
27 pectus excavatum 55 Very rare (<4-1%)
28 obesity 55 Occasional (29-5%)
29 muscular hypotonia 31 HP:0001252
30 gait disturbance 31 HP:0001288
31 sleep disturbance 55 Occasional (29-5%)
32 self-injurious behavior 55 Very rare (<4-1%)
33 inguinal hernia 55 Occasional (29-5%)
34 hearing impairment 55 Very rare (<4-1%)
35 dental malocclusion 55 Frequent (79-30%)
36 global developmental delay 31 HP:0001263
37 delayed speech and language development 55 Very frequent (99-80%)
38 pes planus 55 Very rare (<4-1%)
39 abnormal facial shape 55 Frequent (79-30%)
40 stereotypy 55 Occasional (29-5%)
41 intellectual disability, mild 55 Frequent (79-30%)
42 intellectual disability, severe 55 Occasional (29-5%)
43 retrognathia 55 Frequent (79-30%)
44 strabismus 55 Very rare (<4-1%)
45 dolichocephaly 55 Frequent (79-30%)
46 attention deficit hyperactivity disorder 31 HP:0007018
47 growth delay 55 Occasional (29-5%)
48 cubitus valgus 55 Very rare (<4-1%)
49 atrial septal defect 55 Very rare (<4-1%)
50 dysmetria 55 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 28

Anatomical Context for Williams-Beuren Region Duplication Syndrome

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

38
Heart, Eye, Uterus

Publications for Williams-Beuren Region Duplication Syndrome

Articles related to Williams-Beuren Region Duplication Syndrome:

# Title Authors Year
1
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. ( 19249392 )
2009

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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