Disease Information for Rubinstein-Taybi syndrome

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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)
PROCESS/Eponymic (category)
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

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).

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External Links Related to Rubinstein-Taybi syndrome
Google
Wikipedia
Merck
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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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