Rubinstein-taybi Syndrome 1; Rsts1
Description
Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006).Floating-Harbor syndrome (OMIM ), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (OMIM ), a coactivator for CREBBP.
Clinical Features
Top most frequent phenotypes and symptoms related to Rubinstein-taybi Syndrome 1; Rsts1
- Intellectual disability
- Seizures
- Short stature
- Generalized hypotonia
- Hearing impairment
- Microcephaly
- Scoliosis
- Growth delay
- Neoplasm
- Failure to thrive
And another 145 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— The onset for some of the known clinical features related to this disease may vary, including infantile onset, infantile onset, juvenile onset, and neonatal onset .
Alternative names
Rubinstein-taybi Syndrome 1; Rsts1 Is also known as broad thumbs and great toes, characteristic facies, and mental retardation, rubinstein syndrome, rsts, broad thumb-hallux syndrome.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Rubinstein-taybi Syndrome 1; Rsts1 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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CREBBP Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
CREBBP
Specificity
100 %
Genes
100 % |
CREBBP Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
CREBBP
Specificity
100 %
Genes
100 % |
CREBBP Deletion/Duplication Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
CREBBP
Specificity
100 %
Genes
100 % |
CREBBP Sequence Analysis (Familial Mutation/Variant Analysis).
By Baylor Miraca Genetics Laboratories (United States).
CREBBP
Specificity
100 %
Genes
100 % |
CREBBP Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
CREBBP
Specificity
100 %
Genes
100 % |
CREBBP Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
CREBBP
Specificity
100 %
Genes
100 % |
Syndromic Autism Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SCN1A, SCN2A, BRAF, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C, NSD1 , (...)
View the complete list with 63 more genes
Specificity
2 %
Genes
100 % |
Rubinstein-Taybi Syndrome - CREBBP Sequencing.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).
CREBBP
Specificity
100 %
Genes
100 % |
You can get up to 92 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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