Rubinstein–Taybi syndrome is a rare genetic condition characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumbs and first toes. Other features of the disorder vary among affected individuals.
Most children with Rubinstein-Taybi syndrome are able to learn to read at an elementary level and have a normal life expectancy.
The syndrome may be caused by a genetic change in the CREBBP or EP300 gene, or as the result of a very small loss (microdeletion) of genetic material from the short (p) arm of chromosome 16. In some people with RTS, the cause is unknown.
Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes . Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity.
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.
RTS affects multiple organ systems and is characterized by marked mental disability and physical abnormalities. RTS has profound adverse effects on intellectual development in children, and is often accompanied by memory, mood, and anxiety disorders. The average IQ for individuals with RTS is about 50.
Rubinstein-Taybi syndrome (RTS) is a genetic disease. It involves broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability.
The Rubinstein-Taybi syndrome is not at present detectable before birth and is evenly found in both males and females.
The diagnosis is made after birth and based on the detection of signs such as growth and developmental delay, minor facial anomalies, and broad thumbs and halluces. It is rare to suspect RTS during the prenatal period.
Only three cases of prenatal ultrasound diagnosis or detection have been reported. Two of them have been referred at 21 weeks. Two-dimensional imaging demonstrated the typical findings: broad and abducted thumbs and hallucis and mild micrognathia (Greco E et al.
Up to 8% of those with RTS have mutations in the EP300 gene. RTS is known to affect all genders equally. While the exact number of RTS cases is unknown, research from the Netherlands has been conducted that it could be anywhere between one in 100,000 or one in 125,000.
Rubinstein–Taybi Syndrome
The facial appearance is striking with microcephaly, prominent broad forehead, downward slanting palpebral fissures, broad nasal bridge, convex nose profile, a nasal septum extending well below the nasal ala, high arched palate, everted lower lip, mild micrognathia, and mildly abnormal ears.
There are two types of Rubinstein-Taybi syndrome (RSTS): Type 1, which is caused by mutations of the CREBBP gene; and Type 2, which is caused by mutations of the EP300 gene. Both types are autosomal dominant. Clinically, the mutations are almost always seen as de novo [1].
The treatment of Gottron's papules entails taking a strong anti-inflammatory medication called a steroid (e.g., prednisone). Since steroids can cause numerous harmful side effects, healthcare providers will aim to treat patients with the lowest dose for the shortest period of time possible.
The diagnosis is made after birth and based on the detection of signs such as growth and developmental delay, minor facial anomalies, and broad thumbs and halluces. It is rare to suspect RTS during the prenatal period.
Only three cases of prenatal ultrasound diagnosis or detection have been reported. Two of them have been referred at 21 weeks. Two-dimensional imaging demonstrated the typical findings: broad and abducted thumbs and hallucis and mild micrognathia (Greco E et al.
The Rubinstein-Taybi syndrome is not at present detectable before birth and is evenly found in both males and females.
Up to 8% of those with RTS have mutations in the EP300 gene. RTS is known to affect all genders equally. While the exact number of RTS cases is unknown, research from the Netherlands has been conducted that it could be anywhere between one in 100,000 or one in 125,000.
Rubinstein–Taybi Syndrome
The facial appearance is striking with microcephaly, prominent broad forehead, downward slanting palpebral fissures, broad nasal bridge, convex nose profile, a nasal septum extending well below the nasal ala, high arched palate, everted lower lip, mild micrognathia, and mildly abnormal ears.
There are two types of Rubinstein-Taybi syndrome (RSTS): Type 1, which is caused by mutations of the CREBBP gene; and Type 2, which is caused by mutations of the EP300 gene. Both types are autosomal dominant. Clinically, the mutations are almost always seen as de novo [1].
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