Broad thumbs and toes with intellectual disability and congenital heart disease.
- Specialty
- Cardiology
- Subspecialty
- Cardiology / Genetic cardiology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, birth
- Gene(s) involved
- CREBBP, EP300
- Alternative names & eponyms
- RSTS
Etiology & mechanism
Loss of histone acetyltransferases CBP or EP300.
Gene(s) involved (2)
Symptoms & signs (9)
In plain terms, someone with Rubinstein–Taybi syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
3 shared
Seckel syndrome
beaked nose, intellectual disability, microcephaly
3 shared
Smith–Lemli–Opitz syndrome
feeding problems, intellectual disability, microcephaly
2 shared
Börjeson–Forssman–Lehmann syndrome
intellectual disability, short stature
2 shared
Cardio-facio-cutaneous syndrome
feeding problems, short stature
2 shared
Cardiofaciocutaneous syndrome
feeding problems, intellectual disability
2 shared
Coffin–Lowry syndrome
intellectual disability, short stature
2 shared
Cohen syndrome
intellectual disability, microcephaly
2 shared
Costello syndrome
intellectual disability, short stature
2 shared
Cri du chat syndrome
intellectual disability, microcephaly
2 shared
Fanconi anemia
microcephaly, short stature
Shares genes with
None.
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