Medical Diagnosis For Rubinstein-Taybi

Rubinstein-Taybi syndrome - About the Disease

https://rarediseases.info.nih.gov/diseases/7593/rubinstein-taybi-syndrome/

Summary. Rubinstein-Taybi syndrome (RTS) is a syndrome characterized by broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability. The syndrome may be caused by a genetic change in the …

Rubinstein-Taybi syndrome: MedlinePlus Genetics

https://medlineplus.gov/genetics/condition/rubinstein-taybi-syndrome/

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 …

Rubinstein-Taybi syndrome: Treatments and life …

https://www.medicalnewstoday.com/articles/rubinstein-taybi-syndrome

A medical professional may make an initial diagnosis of RSTS based on the visible clinical features. They may look out for: downward-slanting eyes a low-hanging …

Rubinstein-Taybi syndrome: MedlinePlus Medical …

https://medlineplus.gov/ency/article/001249.htm

Symptoms include: Broadening of the thumbs and big toes; Constipation; Excess hair on body (hirsutism) Heart defects, possibly requiring surgery; Intellectual disability; Seizures; …

Rubinstein Taybi Syndrome - National Organization for …

https://rarediseases.org/rare-diseases/rubinstein-taybi-syndrome/

Rubinstein-Taybi Syndrome - GeneReviews® - NCBI …

https://www.ncbi.nlm.nih.gov/sites/books/NBK1526/

Diagnosis Suggestive Findings Rubinstein-Taybi syndrome (RSTS) should be suspected in individuals with the following characteristic clinical findings: Craniofacial …

Rubinstein–Taybi syndrome - Wikipedia

https://en.wikipedia.org/wiki/Rubinstein%E2%80%93Taybi_syndrome

Anesthesia may be dangerous in these patients: "According to the medical literature, in some cases, individuals with Rubinstein–Taybi syndrome may have complications (e.g., …

Rubinstein-Taybi syndrome medical guidelines - PubMed

https://pubmed.ncbi.nlm.nih.gov/12749047/

Children and adults with Rubinstein-Taybi Syndrome have specific medical conditions that occur with greater frequency than the general population. …

Benign and malignant tumors in Rubinstein-Taybi syndrome

https://pubmed.ncbi.nlm.nih.gov/29359884/

Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomalies syndrome associated with mutations in CREBBP (70%) and EP300 (5-10%). Previous reports have …