Rubinstein-Taybi syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 41
OrphanetNr: 783
OMIM Id: 180849
610543
613684
ICD-10: Q87.2
UMLs: C0035934
MeSH: D012415
MedDRA: 10039281
Snomed: 45582004

Prevalence, inheritance and age of onset:

Prevalence: 0.6 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Unknown
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic malformation syndrome with short stature
 -Rare genetic disease
Inherited nervous system cancer-predisposing syndrome
 -Rare neurologic disease
Lens shape anomaly
 -Rare eye disease
 -Rare genetic disease
Malformation syndrome with short stature
 -Rare developmental defect during embryogenesis
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Partial deletion of the short arm of chromosome 16
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Polymalformative genetic syndrome with increased risk of developing cancer
 -Rare genetic disease
 -Rare oncologic disease
Rare disease with glaucoma as a major feature
 -Rare eye disease
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndrome with brachydactyly
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Syndromic obesity
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
Syndromic renal or urinary tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare renal disease
Unclassified primitive or secondary maculopathy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
2
(HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
3
(HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
4
(HPO:0000431) Wide nasal bridge Frequent [Orphanet] 290 / 7739
5
(HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
6
(HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
7
(HPO:0000670) Carious teeth Frequent [Orphanet] 145 / 7739
8
(HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
9
(HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
10
(HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
11
(HPO:0000444) Convex nasal ridge Very frequent [Orphanet] 87 / 7739
12
(HPO:0000506) Telecanthus Very frequent [Orphanet] 156 / 7739
13
(HPO:0002553) Highly arched eyebrow Frequent [Orphanet] 92 / 7739
14
(HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
15
(HPO:0000632) Lacrimation abnormality Frequent [Orphanet] 42 / 7739
16
(HPO:0000501) Glaucoma Frequent [Orphanet] 180 / 7739
17
(HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
18
(HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
19
(HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
20
(HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
21
(HPO:0000752) Hyperactivity Frequent [Orphanet] 140 / 7739
22
(HPO:0100851) Abnormal emotion/affect behavior Frequent [Orphanet] 85 / 7739
23
(HPO:0100760) Clubbing of toes Frequent [Orphanet] 24 / 7739
24
(HPO:0010055) Broad hallux Very frequent [Orphanet] 56 / 7739
25
(HPO:0001172) Abnormality of the thumb Very frequent [Orphanet] 103 / 7739
26
(HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
27
(HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
28
(HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
29
(HPO:0100759) Clubbing of fingers Frequent [Orphanet] 40 / 7739
30
(HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
31
(HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
32
(HPO:0001561) Polyhydramnios Occasional [Orphanet] 191 / 7739
33
(HPO:0002019) Constipation Frequent [Orphanet] 194 / 7739
34
(HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
35
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
36
(HPO:0000987) Atypical scarring of skin Occasional [Orphanet] 58 / 7739
37
(HPO:0001052) Nevus flammeus Occasional [Orphanet] 88 / 7739
38
(HPO:0011362) Abnormal hair quantity Frequent [Orphanet] 92 / 7739
39
(HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
40
(HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
41
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Diagnosis GeneReviews The diagnosis of Rubinstein-Taybi syndrome (RSTS) is established by clinical findings....
Clinical Description GeneReviews Rubinstein-Taybi syndrome (RSTS) is frequently recognized at birth or in infancy because of the striking facial features and characteristic hand and foot findings. Problems in early life include respiratory difficulties, feeding problems, poor weight gain, recurrent infections, and severe constipation. Moderate intellectual disability is typical....
Genotype-Phenotype Correlations GeneReviews Schorry et al [2008] studied 93 individuals with RSTS and noted 52 with definitive CREBBP mutations. No significant differences were found in congenital anomalies, tumors, dysmorphic features, or level of intellectual impairment between those with and without mutations. Growth retardation tended to be greater in the group without mutations but this was not statistically significant. However, seizures were more common in those with CREBBP mutations. Individuals with large deletions trended toward more severe cognitive impairment and autistic behavior but this did not reach statistical significance....
Differential Diagnosis GeneReviews Given the distinctive facial features and hand and foot abnormalities, the diagnosis of Rubinstein-Taybi syndrome (RSTS) is usually straightforward....
Management GeneReviews To establish the extent of disease in an individual diagnosed with Rubinstein-Taybi syndrome (RSTS), the following evaluations are suggested [Wiley et al 2003]:...
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....