Disease Information for Abducted thumbs syndrome

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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]--------

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External Links Related to Abducted thumbs syndrome
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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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