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- Disease Information
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Disease Processes ▼
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Disease Information for Rubinstein-Taybi syndrome
- Clinical Manifestations
- Signs & Symptoms
- Particular physiognomy/Odd looking kids
- Beaked nose/congenital
- Broad forehead/facies
- Craniofacial Abnormalities/Congenital
- Facies particular
- Pouting expression
- Pouting Lower Lip
- Prominent forehead/High forehead
- Short Philtrum/Facies
- Thin upper lip
- Hirsutism
- Large nails/congenital
- Undescended testicles
- Constipation Children
- Poor feeding/infant
- Crowded teeth
- High arched palate
- Narrow oral aperture/small mouth opening
- Webbed fingers
- Delayed speech/language development
- Development Motor Skills (Milestones) Delayed
- Gait disturbance/abnormality
- Mental Deficiency Child
- Seizures
- Broad great toes
- Broad thumb sign
- Macrocephaly/Large head
- Thin/beaked nose sign
- Short stature
- Short stature Child
- Downward sloping eyes/Antimongoloid slant
- Long eyelashes
- Ptosis (blepharoptosis)
- Thick/Coarse eyebrows
- Low set ears/congenital
- Clinical Presentation & Variations
- Presentation/Multiple deformities newborn (odd look)
- Presentation/Kidney malformations Congenital syndrome Child
- Disease Progression
- Course/Chronic disorder
- Course/Chronic only
- Demographics & Risk Factors
- Population Group
- Child
- Population/Pediatrics population
- Sex & Age Groups
- Population/Child
- Population/Child-Infant Only
- Population/Children/all
- Associated Diseases & Rule outs
- Associated Disease & Complications
- Brain tumor
- Cataract
- Congenital anomalies
- Congenital heart disease
- Corpus callosum defect/agenesis
- Craniosynostosis
- Cryptorchidism
- Hirschsprung disease
- Large Foramen Magnum
- Leukemia
- Mental retardation
- Microcephaly/oligophrenia
- Obesity
- Patent ductus arteriosis
- Pulmonic valve stenosis
- Rib anomalies/Hypoplastic/deformed
- Rubinstein-Taybi syndrome
- Sleep apnea syndrome
- Syndactyly/Webbing
- Vertebrae Anomalies
- Webbed fingers or toes/congenital
- Disease Mechanism & Classification
- Class
- CLASS/Systemic/no comment (category)
- Pathophysiology
- Pathophysiology/Chromosome gene/segment deletion (ex)
- Pathophysiology/Gene locus 16p13.3
- Pathophysiology/Gene locus Chromosome 16
- Pathophysiology/Gene locus Chromosome 16p
- Pathophysiology/Gene Locus Identified/OMIM database
- Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
- Pathophysiology/Sporadic/hereditary/process
- Pathophysiology/Corpus callosum defect
- Pathophysiology/Maternal Chromosome mutation
- Process
- PROCESS/Autosomal dominant hereditary disease (ex).
- PROCESS/Chromosomal disorder (ex)
- PROCESS/Congenital/developmental (category)
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- PROCESS/Genetic disorder/Spontaneous mutations/sporadic
- PROCESS/Hereditofamilial (category)
- PROCESS/INCIDENCE/Esoteric disease (example)
- PROCESS/Multiple dysmorphic syndrome (ex)
- PROCESS/Anomalies/Deformities/Malformations (EX)
- PROCESS/Dystostosis/craniofacial (ex)
- Synonyms
- Synonym
- Broad Thumb Hallux Syndrome, Broad Thumb Hallux Syndromes, broad thumb mental retardation syndrome, BROAD THUMBS AND GREAT TOES CHARACTERISTIC FACIES AND MENTAL RETARDATION, RSTS, RUBENSTEIN TAYBI SYNDROME, RUBINSTEIN SYNDROME, Rubinstein Taybi, Rubinstein Taybi Syndrome, Rubinstein Taybi syndrome (disorder), Rubinstein Taybi syndrome (RSTS RTS), Syndrome Broad Thumb Hallux, Syndrome Rubinstein, Syndrome Rubinstein Taybi, Syndromes Broad Thumb Hallux, Synonym/Otopalatodigital syndrome
- Definition
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A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).
(Edit)
- External Links Related to Rubinstein-Taybi syndrome
- Wikipedia
- Merck
- Images
- PubMed (National Library of Medicine)
- NGC (National Guideline Clearinghouse)
- Medscape (eMedicine)
- Harrison's Online (accessmedicine)
- NEJM (The New England Journal of Medicine)
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