BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuRubinstein-Taybi syndromeRubinstein syndrome, RTSRubinstein-Taybi syndrome (RTS) is a genetic disease. It involves broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability. Causes RTS is a rare condition. Variations in the genes CREBBP or EP300 are seen in some people with this condition.Some people are missing the gene entirely. This is more typical in people with more severe problems.Most cases are sporadic (not passed down through families). They are likely due to a new genetic variant that occurs either in the sperm or egg cells, or at the time of conception. Symptoms Symptoms include:Broadening of the thumbs and big toes Constipation Excess hair on body (hirsutism) Heart defects, possibly requiring surgery Intellectual disability Intellectual disabilityIntellectual disability is a condition diagnosed before age 18 that includes below-average intellectual function and a lack of skills necessary for d...Read Article Now Book Mark Article Seizures Short stature that is noticeable after birth Short statureA child who has short stature is much shorter than children who are the same age and sex. Your health care provider will go over your child's growth ...Read Article Now Book Mark Article Slow development of cognitive skills Slow development of motor skills accompanied by low muscle tone Other signs and symptoms may include:Absent or extra kidney, and other problems with kidney or bladder An underdeveloped bone in the midface Unsteady or stiff walking gait Downward-slanted eyes Low-set ears or malformed ears Low-set earsLow-set ears and pinna abnormalities refer to an abnormal shape or position of the outer ear (pinna or auricle).Read Article Now Book Mark Article Drooping eyelid (ptosis) PtosisEyelid drooping is excess sagging of the upper eyelid. The edge of the upper eyelid may be lower than it should be (ptosis) or there may be excess b...Read Article Now Book Mark Article Cataracts CataractsA cataract is a clouding of the lens of the eye.Read Article Now Book Mark Article Coloboma (a defect in the iris of the eye) ColobomaColoboma of the iris is a hole or defect of the iris of the eye. Most colobomas are present since birth (congenital).Read Article Now Book Mark Article Microcephaly (excessively small head) MicrocephalyMicrocephaly is a condition in which a person's head size is much smaller than that of others of the same age and sex. Head size is measured as the ...Read Article Now Book Mark Article Narrow, small, or recessed mouth with crowded teeth Prominent or "beaked" nose Thick and arched eyebrows with long eyelashes Undescended testicle (cryptorchidism), or other testicular problems CryptorchidismUndescended testicle occurs when one or both testicles fail to move into the scrotum before birth.Read Article Now Book Mark Article Exams and Tests Your health care provider will perform a physical exam. Blood tests and x-rays may also be done.Genetic tests can be done to determine if the genes involved in this disease are missing or changed. Treatment There is no specific treatment for RTS. However, the following treatments can be used to manage problems commonly associated with the condition.Surgery to repair the bones in the thumbs or toes can sometimes improve grasp or relieve discomfort. Early intervention programs and special education to address developmental disabilities. Referral to behavioral specialists and support groups for family members. Medical treatment for heart defects, hearing loss, and eye abnormalities. Treatment for constipation and gastroesophageal reflux (GERD). Support Groups More information and support for people with RTS and their families can be found at:Special Friends Foundation -- specialfriends.org Rubinstein-Taybi Syndrome Children's Foundation -- www.facebook.com/RTSCF/ Outlook (Prognosis) The majority of children can learn to read at an elementary level. The majority of children have delayed motor development, but on average, they learn to walk by 2 1/2 years of age. Possible Complications Complications depend on what part of the body is affected. Complications may include:Feeding problems in infants Repeated ear infections and hearing loss Problems with the shape of the heart Abnormal heartbeat Scarring of the skin When to Contact a Medical Professional An appointment with a geneticist is recommended if your provider finds signs of RTS. Prevention Genetic counseling is advised for couples with a family history of this disease who are planning a pregnancy.Open ReferencesReferences Burkardt DD, Graham JM. Abnormal body size and proportion. In: Pyeritz RE, Korf BR, Grody WW, eds. Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Clinical Principles and Applications. 7th ed. Cambridge, MA: Elsevier Academic Press; 2019:chap 4.Jones KL, Jones MC, Campo MD. Very small stature, not skeletal dysplasia. In: Jones KL, Jones MC, Campo MD, eds. Smith's Recognizable Patterns of Human Malformation. 8th ed. Philadelphia, PA: Elsevier; 2022:100-133.Wynshaw-Boris A, Klein O. Developmental genetics and birth defects. In: Cohn RD, Scherer SW, Hamosh A, eds. Thompson & Thompson Genetics and Genomics in Medicine. 9th ed. Philadelphia, PA: Elsevier; 2024:chap 15.AllVideoImagesTogRelated Information Short stature(Symptoms)Low-set ears and pinna abnormalities(Symptoms)Palpebral slant - eye(Symptoms) Review Date: 9/18/2023 Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. 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Rubinstein-Taybi syndromeRubinstein syndrome, RTSRubinstein-Taybi syndrome (RTS) is a genetic disease. It involves broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability. Causes RTS is a rare condition. Variations in the genes CREBBP or EP300 are seen in some people with this condition.Some people are missing the gene entirely. This is more typical in people with more severe problems.Most cases are sporadic (not passed down through families). They are likely due to a new genetic variant that occurs either in the sperm or egg cells, or at the time of conception. Symptoms Symptoms include:Broadening of the thumbs and big toes Constipation Excess hair on body (hirsutism) Heart defects, possibly requiring surgery Intellectual disability Intellectual disabilityIntellectual disability is a condition diagnosed before age 18 that includes below-average intellectual function and a lack of skills necessary for d...Read Article Now Book Mark Article Seizures Short stature that is noticeable after birth Short statureA child who has short stature is much shorter than children who are the same age and sex. Your health care provider will go over your child's growth ...Read Article Now Book Mark Article Slow development of cognitive skills Slow development of motor skills accompanied by low muscle tone Other signs and symptoms may include:Absent or extra kidney, and other problems with kidney or bladder An underdeveloped bone in the midface Unsteady or stiff walking gait Downward-slanted eyes Low-set ears or malformed ears Low-set earsLow-set ears and pinna abnormalities refer to an abnormal shape or position of the outer ear (pinna or auricle).Read Article Now Book Mark Article Drooping eyelid (ptosis) PtosisEyelid drooping is excess sagging of the upper eyelid. The edge of the upper eyelid may be lower than it should be (ptosis) or there may be excess b...Read Article Now Book Mark Article Cataracts CataractsA cataract is a clouding of the lens of the eye.Read Article Now Book Mark Article Coloboma (a defect in the iris of the eye) ColobomaColoboma of the iris is a hole or defect of the iris of the eye. Most colobomas are present since birth (congenital).Read Article Now Book Mark Article Microcephaly (excessively small head) MicrocephalyMicrocephaly is a condition in which a person's head size is much smaller than that of others of the same age and sex. Head size is measured as the ...Read Article Now Book Mark Article Narrow, small, or recessed mouth with crowded teeth Prominent or "beaked" nose Thick and arched eyebrows with long eyelashes Undescended testicle (cryptorchidism), or other testicular problems CryptorchidismUndescended testicle occurs when one or both testicles fail to move into the scrotum before birth.Read Article Now Book Mark Article Exams and Tests Your health care provider will perform a physical exam. Blood tests and x-rays may also be done.Genetic tests can be done to determine if the genes involved in this disease are missing or changed. Treatment There is no specific treatment for RTS. However, the following treatments can be used to manage problems commonly associated with the condition.Surgery to repair the bones in the thumbs or toes can sometimes improve grasp or relieve discomfort. Early intervention programs and special education to address developmental disabilities. Referral to behavioral specialists and support groups for family members. Medical treatment for heart defects, hearing loss, and eye abnormalities. Treatment for constipation and gastroesophageal reflux (GERD). Support Groups More information and support for people with RTS and their families can be found at:Special Friends Foundation -- specialfriends.org Rubinstein-Taybi Syndrome Children's Foundation -- www.facebook.com/RTSCF/ Outlook (Prognosis) The majority of children can learn to read at an elementary level. The majority of children have delayed motor development, but on average, they learn to walk by 2 1/2 years of age. Possible Complications Complications depend on what part of the body is affected. Complications may include:Feeding problems in infants Repeated ear infections and hearing loss Problems with the shape of the heart Abnormal heartbeat Scarring of the skin When to Contact a Medical Professional An appointment with a geneticist is recommended if your provider finds signs of RTS. Prevention Genetic counseling is advised for couples with a family history of this disease who are planning a pregnancy.Open ReferencesReferences Burkardt DD, Graham JM. Abnormal body size and proportion. In: Pyeritz RE, Korf BR, Grody WW, eds. Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Clinical Principles and Applications. 7th ed. Cambridge, MA: Elsevier Academic Press; 2019:chap 4.Jones KL, Jones MC, Campo MD. Very small stature, not skeletal dysplasia. In: Jones KL, Jones MC, Campo MD, eds. Smith's Recognizable Patterns of Human Malformation. 8th ed. Philadelphia, PA: Elsevier; 2022:100-133.Wynshaw-Boris A, Klein O. Developmental genetics and birth defects. In: Cohn RD, Scherer SW, Hamosh A, eds. Thompson & Thompson Genetics and Genomics in Medicine. 9th ed. Philadelphia, PA: Elsevier; 2024:chap 15.