Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

General Information (adopted from Orphanet):

Synonyms, Signs: RSTS DELETION SYNDROME
RUBINSTEIN-TAYBI DELETION SYNDROME
Number of Symptoms 33
OrphanetNr: 353281
OMIM Id: 610543
ICD-10: Q87.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant contiguous gene syndrome
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Rubinstein-Taybi syndrome
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease
 -Rare oncologic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000077) Abnormality of the kidney 73 / 7739
2
 (HPO:0000444) Convex nasal ridge 87 / 7739
3
 (HPO:0009553) Abnormality of the hairline 17855048 IBIS 30 / 7739
4
 (HPO:0000252) Microcephaly 832 / 7739
5
 (HPO:0000218) High palate 356 / 7739
6
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
7
 (HPO:0001999) Abnormal facial shape 169 / 7739
8
 (HPO:0009765) Low hanging columella 9 / 7739
9
 (HPO:0000329) Facial hemangioma 17855048 IBIS 5 / 7739
10
 (HPO:0000448) Prominent nose 56 / 7739
11
 (HPO:0000347) Micrognathia 426 / 7739
12
 (HPO:0000545) Myopia 17855048 IBIS 286 / 7739
13
 (HPO:0000486) Strabismus 17855048 IBIS 576 / 7739
14
 (HPO:0001250) Seizures 1245 / 7739
15
 (HPO:0001263) Global developmental delay 17855048 IBIS 853 / 7739
16
 (HPO:0002360) Sleep disturbance 17855048 IBIS 113 / 7739
17
 (HPO:0001249) Intellectual disability 17855048 IBIS 1089 / 7739
18
 (HPO:0011304) Broad thumb 39 / 7739
19
 (HPO:0002650) Scoliosis 17855048 IBIS 705 / 7739
20
 (HPO:0004209) Clinodactyly of the 5th finger 17855048 IBIS 288 / 7739
21
 (HPO:0010055) Broad hallux 56 / 7739
22
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
23
 (HPO:0001748) Polysplenia 14 / 7739
24
 (HPO:0001508) Failure to thrive 454 / 7739
25
 (HPO:0001513) Obesity 17855048 IBIS 172 / 7739
26
 (HPO:0002219) Facial hypertrichosis 8 / 7739
27
 (HPO:0010815) Nevus sebaceous 17855048 IBIS 2 / 7739
28
 (HPO:0004383) Hypoplastic left heart 29 / 7739
29
 (HPO:0002719) Recurrent infections 107 / 7739
30
 (HPO:0001252) Muscular hypotonia 990 / 7739
31
 (HPO:0001442) Somatic mosaicism 7 / 7739
32
 (HPO:0001522) Death in infancy 275 / 7739
33
 (HPO:0001452) Autosomal dominant contiguous gene syndrome 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bartsch et al. (1999) reported 2 patients with RSTS caused by large deletions of chromosome 16p13.3 who died in infancy, which is rare in RSTS. One of these patients had accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, ...
Molecular genetics OMIM Using FISH studies in 3 patients with severe RSTS who died in infancy, Bartsch et al. (2006) identified deletions of chromosome 16p13.3 ranging from 400 kb to over 3 Mb. The deletions in all 3 patients included the ...