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Rubinstein-Taybi syndrome
Monday 22 November 2004
Rubinstein-Taybi syndrome is an autosomal dominant syndrome characterized by mental retardation, broad thumbs and toes, and facial abnormalities.
Synopsis
systemic anomalies
- postnatal growth retardation
carniofacila anomalies
- microcephaly
- large anterior fontanelle
- late closure of fontanelle
- frontal bossing
- low anterior hairline
- hypoplastic maxilla
- micrognathia
- low set ears
- heavy eyebrows
- long eyelashes
- ptosis
- epicanthal folds
- strabismus
- nasolacrimal duct obstruction
- cataracts
- glaucoma
- coloboma
- downward slanting palpebral fissures
- beaked nose
- deviated nasal septum
- small opening of the mouth
- narrow palate
- dental crowding
talon cusps
patent ductus arteriosus
atrial septal defects
ventricular septal defects
capillary hemangiomas
sternal anomalies
accessory spleens (10573006)
hypoplastic left heart (10573006)
abnormal pulmonary lobulation (10573006)
genitourinary anomalies
- renal agenesis (10573006)
- hypospadias
- cryptorchidism
- shawl scrotum
skeletal anomalies
- delayed skeletal maturation
- large foramen magnum
- parietal foramina
- scoliosis Spina bifida occulta
- small, flared iliac wings
- patellar dislocation
- broad thumbs with radial angulation
- fifth finger clinodactyly
- persistent fetal fingertip pads
- syndactyly
- polydactyly
- broad great toes
- plantar crease between first and second toes
- pes planus
- single transverse palmar creases
- keloid formation in surgical scars
- capillary hemangiomas
- cafe-au-lait spots
- multiple pilomatricomas (pilomatricomatosis)
hirsutism
agenesis of corpus callosum
predisposition to tumors (head and neck ++)
- keloid formation in surgical scars
- capillary hemangiomas
- cafe-au-lait spots
- multiple pilomatricomas (pilomatricomatosis)
Cytogenetics
16p13.3 chromosomal anomalies
- 10% of submicroscopic deletions of 16p13.3 detectable by FISH
- 16p13.3 translocations
- 16p13.3 inversions
Etiology
mutation in the gene CREBBP encoding the transcriptional coactivator CREB-binding protein (MIM.600140) at 16p13.3
- truncating mutations in CREBBP in 10% of patients
mutation in the gene EP300 (MIM.602700) at 22q13 encoding 300-kD E1A-binding protein (EP300)
See also
16p13.3 deletion syndrome (MIM.610543)