Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

General Information (adopted from Orphanet):

Synonyms, Signs: RSTS2
Number of Symptoms 25
OrphanetNr: 353284
OMIM Id: 613684
ICD-10: Q87.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Congenital onset
[Omim]

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:0000444) Convex nasal ridge 87 / 7739
2
 (HPO:0000670) Carious teeth 145 / 7739
3
 (HPO:0011094) Overbite 5 / 7739
4
 (HPO:0000189) Narrow palate 45 / 7739
5
 (HPO:0000689) Dental malocclusion 114 / 7739
6
 (HPO:0000218) High palate 356 / 7739
7
 (HPO:0000347) Micrognathia 426 / 7739
8
 (HPO:0000527) Long eyelashes 46 / 7739
9
 (HPO:0000252) Microcephaly 832 / 7739
10
 (HPO:0000448) Prominent nose 56 / 7739
11
 (HPO:0000278) Retrognathia 100 / 7739
12
 (HPO:0001263) Global developmental delay 853 / 7739
13
 (HPO:0001256) Intellectual disability, mild 141 / 7739
14
 (HPO:0000750) Delayed speech and language development 197 / 7739
15
 (HPO:0011304) Broad thumb 39 / 7739
16
 (HPO:0010055) Broad hallux 56 / 7739
17
 (OMIM) Square distal fingertips 1 / 7739
18
 (OMIM) Normal palpebral fissures 1 / 7739
19
 (OMIM) Low-normal intelligence 3 / 7739
20
 (OMIM) Heavy, arched eyebrows 1 / 7739
21
 (OMIM) Mildly downslanting palpebral fissures 1 / 7739
22
 (OMIM) Posterior helical pits 1 / 7739
23
 (OMIM) Long columella extending below the alae nasi 1 / 7739
24
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
25
 (HPO:0003577) Congenital onset 133 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The classic facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting ...
Clinical Description OMIM Roelfsema et al. (2005) reported 3 unrelated patients with RSTS2. The phenotypes were compatible with RSTS in most respects: all patients had heavy and arched eyebrows, long eyelashes, a prominent nose with long columella, and a pouting lower ...
Molecular genetics OMIM In 3 of 92 patients with a clinical diagnosis of RSTS, Roelfsema et al. (2005) identified 3 different mutations in the EP300 gene (602700.0003-602700.0005), and stated that these were the first mutations found in EP300 as the basis ...