Not all symptoms will be present in each patient, though. [webmd.com]

Microstomia with hypoplastic maxilla were present. Intraoral examination revealed a high arched palate. [ijdvl.com]

In some cases, duplication of the kidneys and/or ureters may also be present. Cardiac Approximately one third of infants with RSTS have an associated heart defect that is present at birth (congenital heart defect). [rarediseases.org]

This is a rare genetic disease which is present in approximately 1 in 100,000 to 125,000 children. Mild cases of this disorder are treated with supportive care and addressing any specific deficits. [verywellhealth.com]

At present, the cause of Rubinstein-Taybi syndrome remains unknown in approximately half the patients. [emedicine.medscape.com]

• Absent Kidney

  In addition, infants with RSTS may have underdeveloped (hypoplastic) or absent kidney(s), repeated infections of the urinary tract, kidney stones, unusual accumulation of urine in the kidney (hydronephrosis), and/or backflow (reflux) of urine into the [rarediseases.org]

Sections Dermatologic Manifestations of Rubinstein-Taybi Syndrome Overview Background Pathophysiology Etiology Epidemiology Prognosis Patient Education Show All Presentation History Physical Examination Complications Show All DDx Workup Imaging Studies [emedicine.medscape.com]

Rubinstein-Taybi Syndrome Treatment The treatment of RTS depends on the symptoms of the affected individual. [webmd.com]

Treatment Rubinstein-Taybi syndrome is treated by addressing the medical issues caused by the condition to ensure they do not evolve into life-threatening complications. This being said, there is no specific treatment for Rubinstein-Taybi syndrome. [verywellhealth.com]

The symptoms of RTS range from mild to severe, therefore treatment programs should be developed on an individual basis. Early intervention with an emphasis on speech therapy is advised. [aapos.org]

Is there a treatment? In light of the large number of potential manifestations, treatment should always be symptom-orientated and involve different specialist disciplines working together. [krebs-praedisposition.de]

Prognosis The survival rate is good, with frequent reports of adult patients with Rubinstein-Taybi syndrome. [emedicine.medscape.com]

The presence of additional medical problems also indicates whether an infant’s prognosis is good or bad. [verywellhealth.com]

Etiology Mutations in two genes, CBP (CREBBP) and EP300, have been identified in affected individuals. [8, 9] CBP and EP300 are ubiquitously expressed homologous proteins that act as transcriptional co-activators. [emedicine.medscape.com]

Since genetic factors play an important role in the development of vitiligo lesions, a possible common genetic etiology cannot be excluded for the occurrence of vitiligo in our patient. [ijdvl.com]

Etiology and recurrence risk in Rubinstein- Taybi syndrome. Am J Med Genet. 1990;6:56–64. CAS Google Scholar Bloch-Zupan A, Stachtou J, Emmanouil D, Arveiler B, Griffiths D, Lacombe D. [ijponline.biomedcentral.com]

For both genes, a mutation database is available that also includes unpublished mutations, as follows: Epidemiology Frequency The prevalence of Rubinstein-Taybi syndrome in the general population is approximately 1 case per 300,000 persons and is as high [emedicine.medscape.com]

Pathophysiology The locus of Rubinstein-Taybi syndrome is located on band 16p13.3, which includes a gene encoding a binding protein for cyclic adenosine monophosphate–response element binding protein (CBP) (CREBBP or CBP gene) that is responsible for [emedicine.medscape.com]

Author information Authors and Affiliations Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milano [ijponline.biomedcentral.com]

Improvement Performance Measures Perioperative Care and Consultation Pharmacoeconomics Pharmacoepidemiology Pharmacogenetics Pharmacy and Clinical Pharmacology Physical Medicine and Rehabilitation Physical Therapy Physician Leadership Poetry Population Health Preventive [jamanetwork.com]

This can help prevent and monitor any respiratory or feeding difficulties related to RTS. [webmd.com]

Although the topic concerning neuroimaging is somewhat controversial, the authors suggest that it enables proper treatment and prevents neurologic deficits (Giusanni et al., 2012). [journals.lww.com]

Affected individuals may require early intervention to prevent and/or monitor respiratory and feeding difficulties. Special education programs, vocational training, speech, and/or behavioral therapy may also be recommended. [rarediseases.org]

Brain magnetic resonance in the routine management of Rubinstein-Taybi syndrome (RTS) can prevent lifethreatening events and neurological deficits. Am J Med Genet A. 2014;164A:2129–32. Article PubMed Google Scholar Rubinstein JH. [ijponline.biomedcentral.com]