Rubinstein-Taybi syndrome is a congenital condition which primarily causes short stature, distinctive facial features, intellectual disability (with an average IQ of 36-51), abnormally broad and often angulated thumbs and great toes (halluces), feeding difficulties (dysphagia)and other health problems.
Rarely, the syndrome has been inherited from an affected parent in an autosomal dominant pattern.
Most children with Rubinstein-Taybi syndrome are able to learn to read at an elementary level and have a normal life expectancy.
On average they learn to walk by age 2 1/2.
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Cause
In most affected children, RSTS occurs as the result of a new (de novo) genetic mutation that is not present in or carried by the parents. In these cases, the risk of having a second affected child is less than 1%.
Half of Rubinstein-Taybi syndrome diagnoses have no known cause
RSTS may also be inherited in an autosomal dominant pattern, meaning that if a person has RSTS each of his/her children have a 50% chance of having RSTS.
The most common gene responsible for RSTS is the CREBBP gene.
Pathogenic variants in the CREBBP gene have been identified in 50%-60% of individuals with RSTS.
Mutations in the EP300 gene have been identified in 3%-8% of individuals with RSTS.
Smallness of the lower part of the face that is displaced farther back than otherwise expected (retrognathia)?
Soft tissue structure that hangs in the back of the throat may also be divided (bifid uvula)?
Appear to be frowning or upset when they smile?
Feeding problems/swallowing difficulties?
Heart (cardiac) defects/atrial septal defect (‘hole in the heart’):
Short of breath and/or breathing difficulties (whether after exercise or not) and/or wheezing?
Regular and reoccurring chest infections?
Heart palpitations and/or irregular heartbeats?
Abnormalities of the kidneys/Pain in pelvis area and/or lower back and/or intense pain in the back or side (or moving pain from back to side) or in groin area?
One find passing stools difficult (can be painful) and constipated?
Abnormalities of the penis (opening of penis in wrong place), testicles (failure of testicles to fall to right position), or vagina (Blockage of the vagina)/Underdevelopment or malformation of genitals and urinary tract?
Slowed growth and/or shorter than average?
Bone and joint movement problems and/or difficulty using arms and/or body and/or legs and/or lack of stamina and/or walking difficulties and/or crawling difficulties and/or rolling over difficulties?
Distinctively broad and/or angled fingers and toes (distal bones of the thumbs and great toes may also be angled improperly (misaligned) on a proximal bone that is abnormally shaped (delta phalanx). The fifth fingers may be fixed in a bent position (clinodactyly)]?
Toes that overlap?
Abnormal side-to-side (scoliosis) or front-to-back (kyphosis) curvature of the spine?
Abnormal depression of the bone forming the centre of the chest (sternum), known as “funnel chest” or pectus excavatum?
Abnormalities of vertebrae and the pelvis, malformations of ribs?
Recurrent dislocation of the knee caps?
Lower end of the spinal cord may be abnormally tied down (tethering)?
Seizures?
Complications /Information to beware of/General tips:
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Detailed Information
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