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- Disease Information
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Disease Processes ▼
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Disease Information for Abducted thumbs syndrome
- Clinical Manifestations
- Signs & Symptoms
- Contractures Fingers/Toes
- Hyperextensable Joints Infant
- Particular physiognomy/Odd looking kids
- Craniofacial Abnormalities/Congenital
- Facial Asymmetry
- Hirsutism
- Hypertrichosis
- Bifid uvula
- High arched palate
- Tongue Protrudes Infant
- Uvula anomaly/deformity
- Abducted thumbs
- Camptoldactyly
- Delay Sitting Unsupported Infant
- Hypotonia
- Mouth Hangs Open Infant
- Muscles Soft/Doughy Infant
- Rolling Over Delay Infant
- Babkin infant sign/Abnormal
- Delayed walking milestone/child
- Development Motor Skills (Milestones) Delayed
- Galant Infant reflex/Abnormal
- Head Neck Floppy Infant Hypotonia Sign
- Infant Head Support Delay
- Mental Deficiency Child
- Moro reflex Poor/Absent Infant
- Palmar Grasp infant Reflex Abnormal
- Primitive infant reflexes/Abnormal
- Prominent occiput/infant
- Rooting infant sign/Abnormal
- Seizures
- Swimming infant reflex/Abnormal
- Tonic Neck Infant reflex/Abnormal
- Shallow Breathing Infant
- Asymmetric Limbs
- Bathrocephaly
- Joint/limit range of motion
- Sternum deformities
- Lateral Asymmetry
- Downward sloping eyes/Antimongoloid slant
- Low set/odd position ears
- Clinical Presentation & Variations
- Presentation/Multiple deformities newborn (odd look)
- Demographics & Risk Factors
- Ethnic or Racial Factors
- Amish population
- Population Group
- Child
- Population/Pediatrics population
- Sex & Age Groups
- Population/Children/all
- Diagnostic Test Results
- CT Scan
- MRI/Head Brain Abnormal
- MRI/Head White matter lesions
- Associated Diseases & Rule outs
- Associated Disease & Complications
- Abducted thumbs syndrome
- Arthrogryposis, multiplex, congenita
- Cleft Lip
- Cleft lip/deformity
- Cleft palate/deformity
- Craniosynostosis
- Ear deformities/congenital
- Hypertelorism/Wide Spaced Eyes
- Mental retardation
- Microcephaly/oligophrenia
- Multiple Congenital Anomalies
- Multiple congenital anomalies/Mental retardation
- Neonatal Hypotonia/Floppy Baby Syndrome
- Ophthalmoplegia
- Pectus excavatum
- Talipes varus deformity
- Torticollis, congenital
- Torticollis
- Hand anomalies
- Disease Mechanism & Classification
- Class
- CLASS/Jablonski/NIH Archive Anomalies Database
- CLASS/Pediatric disorders (ex)
- Pathophysiology
- Pathophysiology/Asymmetric deformities
- Pathophysiology/Maternal Chromosome mutation
- Process
- PROCESS/Autosomal recessive disorder (ex)
- PROCESS/Genetic disorder/Spontaneous mutations/sporadic
- PROCESS/Hereditofamilial (category)
- PROCESS/INCIDENCE/Extremely rare disease
- PROCESS/INCIDENCE/Rare disease (ex)
- PROCESS/Multiple dysmorphic syndrome (ex)
- PROCESS/Dystostosis/craniofacial (ex)
- Synonyms
- Synonym
- Abducted thumbs Syndrome, Synonym/Christian-Andrews-Conneally-Muller syndrome, Synonym/Craniosynostosis-arthrogryposis-cleft palate syn
- Definition
-
A syndrome of craniosynostosis, microcephaly, arthrogryposis, and cleft palate and varied craniofacial, respiratory, neurological, and limb abnormalities;
autosomal recessive in Amish families with mental retardation; usually die in childhood
--------[Jablonski/NIH Anomalies Archive]--------
(Edit)
- External Links Related to Abducted thumbs syndrome
- Wikipedia
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- 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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