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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 associated genes
20 signs/symptoms
Rubinstein-Taybi syndrome due to CREBBP mutations
Pfeiffer syndrome type 1

CREBBP FGFR1
FGFR2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CREBBP
(0.67)
FGFR1



Citations in the biomedical literature:


Rubinstein-Taybi syndrome due to CREBBP mutations
CREBBP
Pfeiffer syndrome type 1
FGFR1 FGFR2



Rubinstein-Taybi syndrome due to CREBBP mutations
Pfeiffer syndrome type 1

Synonym(s):
(no synonyms)

Synonym(s):
- Classic Pfeiffer syndrome

Classification (Orphanet):
- 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
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references

Pfeiffer syndrome type 1

Very frequent
- Autosomal dominant inheritance
- Brachycephaly / flat occiput
- Broad / bifid big toe
- Broad / bifid thumb
- Depressed nasal bridge
- High forehead
- High vaulted / narrow palate
- Hypertelorism
- Mid-facial hypoplasia / short / small midface
- Short big toe
- Short / small nose
- Thumb hypoplasia / aplasia / absence

Frequent
- Low set ears / posteriorly rotated ears
- Proptosis / exophthalmos
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes

Occasional
- Hearing loss / hypoacusia / deafness
- Stenosis of aqueduc of Sylvius


Rubinstein-Taybi syndrome due to CREBBP mutations

(no data available)