Warsaw breakage syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: WABS
Number of Symptoms 36
OrphanetNr: 280558
OMIM Id: 613398
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Polymalformative genetic syndrome with increased risk of developing cancer
 -Rare genetic disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000154) Wide mouth 137 / 7739
2
 (HPO:0000340) Sloping forehead 86 / 7739
3
 (HPO:0000274) Small face 18 / 7739
4
 (HPO:0000252) Microcephaly 832 / 7739
5
 (HPO:0000286) Epicanthus 371 / 7739
6
 (HPO:0000218) High palate 356 / 7739
7
 (HPO:0000588) Optic nerve coloboma 27 / 7739
8
 (HPO:0008586) Hypoplasia of the cochlea 4 / 7739
9
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
10
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
11
 (HPO:0000365) Hearing impairment 539 / 7739
12
 (HPO:0000378) Cupped ear 34 / 7739
13
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
14
 (HPO:0001263) Global developmental delay 853 / 7739
15
 (HPO:0001249) Intellectual disability 1089 / 7739
16
 (HPO:0000954) Single transverse palmar crease 162 / 7739
17
 (HPO:0004691) 2-3 toe syndactyly 50 / 7739
18
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
19
 (HPO:0000965) Cutis marmorata 46 / 7739
20
 (HPO:0001636) Tetralogy of Fallot rare [HPO:skoehler] 104 / 7739
21
 (HPO:0001629) Ventricular septal defect 316 / 7739
22
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
23
 (HPO:0001252) Muscular hypotonia 990 / 7739
24
 (HPO:0010547) Muscle flaccidity 466 / 7739
25
 (HPO:0001324) Muscle weakness 859 / 7739
26
 (OMIM) Hypopigmented patches (in some patients) 1 / 7739
27
 (OMIM) Coloboma of the right optic disc 1 / 7739
28
 (OMIM) Elongated face 4 / 7739
29
 (OMIM) Narrow bifrontal diameter 2 / 7739
30
 (OMIM) Bilateral hypoplastic cochlea 1 / 7739
31
 (OMIM) Bilateral clinodactyly of the fifth fingers 1 / 7739
32
 (OMIM) Hyperpigmented patches (in some patients) 1 / 7739
33
 (OMIM) Syndactyly of the second and third toes 2 / 7739
34
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
35
 (OMIM) Jugular hypoplasia 1 / 7739
36
 (OMIM) Bilateral epicanthal folds 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Van der Lelij et al. (2010) described a 14-year-old boy with severe pre- and postnatal growth retardation, microcephaly, facial dysmorphism (small and elongated face, narrow bifrontal diameter, jugular hypoplasia, bilateral epicanthal folds, relatively large mouth, and cup-shaped ears), ...
Molecular genetics OMIM In a 14.5-year-old boy with Warsaw breakage syndrome, van der Lelij et al. (2010) identified compound heterozygosity for mutations in the DDX11 gene: a splice site mutation (601150.0001) on the maternal allele and a 3-bp deletion (601150.0002) on ...