MCID: WLL012
MIFTS: 22

Williams-Beuren Region Duplication Syndrome

Categories: Genetic diseases, 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 54 24 29 69
Williams Syndrome Region Duplication Syndrome 24
7q11.23 Microduplication Syndrome 56
Wbs Duplication Syndrome 24
Trisomy 7q11.23 56
Dup(7)(q11.23) 56

Characteristics:

OMIM:

54
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)


Classifications:



External Ids:

OMIM 54 609757
Orphanet 56 ORPHA96121
UMLS via Orphanet 70 C1857844
ICD10 via Orphanet 34 Q92.3

Summaries for Williams-Beuren Region Duplication Syndrome

OMIM : 54
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 williams syndrome region duplication syndrome, is related to distal 7q11.23 microduplication syndrome and 7q11.23 duplication syndrome, and has symptoms including short stature, long eyelashes and ventriculomegaly. 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:

id Related Disease Score Top Affiliating Genes
1 distal 7q11.23 microduplication syndrome 12.0
2 7q11.23 duplication syndrome 11.5

Symptoms & Phenotypes for Williams-Beuren Region Duplication Syndrome

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
ventriculomegaly
thin corpus callosum
developmental delay
hydrocephalus (rare)
cerebellar vermis hypoplasia
more
Genitourinary- Kidneys:
unilateral renal agenesis (rare)
hydronephrosis (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- Internal Genitalia Male:
cryptorchidism (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:

56 (show top 50) (show all 68)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 Occasional (29-5%)
2 long eyelashes 56 Frequent (79-30%)
3 ventriculomegaly 56 Frequent (79-30%)
4 seizures 56 Occasional (29-5%)
5 unsteady gait 56 Frequent (79-30%)
6 hydrocephalus 56 Very rare (<4-1%)
7 micrognathia 56 Frequent (79-30%)
8 hypertelorism 56 Occasional (29-5%)
9 patent ductus arteriosus 56 Occasional (29-5%)
10 hypospadias 56 Very rare (<4-1%)
11 cerebellar hypoplasia 56 Frequent (79-30%)
12 retrognathia 56 Frequent (79-30%)
13 hydronephrosis 56 Very rare (<4-1%)
14 cryptorchidism 56 Very rare (<4-1%)
15 hemivertebrae 56 Very rare (<4-1%)
16 broad nasal tip 56 Frequent (79-30%)
17 short philtrum 56 Frequent (79-30%)
18 macrocephaly 56 Frequent (79-30%)
19 broad forehead 56 Frequent (79-30%)
20 cutis marmorata 56 Occasional (29-5%)
21 inguinal hernia 56 Occasional (29-5%)
22 hyperactivity 56 Occasional (29-5%)
23 aggressive behavior 56 Occasional (29-5%)
24 thin vermilion border 56 Occasional (29-5%)
25 joint hypermobility 56 Occasional (29-5%)
26 esotropia 56 Occasional (29-5%)
27 intellectual disability, mild 56 Frequent (79-30%)
28 pectus excavatum 56 Very rare (<4-1%)
29 brachycephaly 56 Frequent (79-30%)
30 unilateral renal agenesis 56 Very rare (<4-1%)
31 tracheomalacia 56 Very rare (<4-1%)
32 low-set, posteriorly rotated ears 56 Frequent (79-30%)
33 pes planus 56 Very rare (<4-1%)
34 impaired smooth pursuit 56 Very rare (<4-1%)
35 high palate 56 Frequent (79-30%)
36 generalized hypotonia 56 Frequent (79-30%)
37 dysmetria 56 Frequent (79-30%)
38 dolichocephaly 56 Frequent (79-30%)
39 dental malocclusion 56 Frequent (79-30%)
40 drooling 56 Occasional (29-5%)
41 exotropia 56 Very rare (<4-1%)
42 aortic dilatation 56 Frequent (79-30%)
43 sacral dimple 56 Very rare (<4-1%)
44 chronic constipation 56 Frequent (79-30%)
45 congenital diaphragmatic hernia 56 Frequent (79-30%)
46 single transverse palmar crease 56 Frequent (79-30%)
47 hearing impairment 56 Very rare (<4-1%)
48 chronic otitis media 56 Occasional (29-5%)
49 aortic valve stenosis 56 Very rare (<4-1%)
50 cortical gyral simplification 56 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:

id Genetic test Affiliating Genes
1 Williams-Beuren Region Duplication Syndrome 29 24

Anatomical Context for Williams-Beuren Region Duplication Syndrome

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

39
Heart, Eye, Uterus

Publications for Williams-Beuren Region Duplication Syndrome

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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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