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Disease Information for Adducted thumbs-Mental retardation syndrome

Clinical Manifestations
Signs & Symptoms: Particular physiognomy/Odd looking kids
: Craniofacial Abnormalities/Congenital; Deep-Set Eyes; Sunken Cheek Bones; Thin upper lip
: Hypoplasia Narrow Maxilla; Microstomia/Small mouth
: Hypertrophy leg muscles; Muscle hypertrophy; Pseudohypertrophy calf muscle/sign
: Aphasia; Delayed speech/language development; Development Motor Skills (Milestones) Delayed; Dysphasia; Leg reflexes increased; Mental Deficiency Child; Paralysis; Progressive enlargement of Skull/infant; Shuffling 'magnetic' gait; Spastic paraplegia/signs
: Adducted thumbs deformity; Asymmetric Limbs; Hypoplastic thumb deformity; Lumbar lordosis/excess; Macrocephaly/Large head; Megalocephaly; Small hands/feet
Clinical Presentation & Variations: Presentation/Multiple deformities newborn (odd look)
Demographics & Risk Factors
Population Group: Child; Infant; Population/Pediatrics population
Sex & Age Groups: Population/Children/all; Population/Infant
Associated Diseases & Rule outs
Associated Disease & Complications: Adducted thumbs-Mental retardation syndrome; Brachycephaly; Congenital anomalies; Corpus callosum defect/agenesis; Facial dysplasia; Hip subluxation; Hydrocephalus; Inguinal Hernia; MASA Syndrome; Mental retardation; Multiple Congenital Anomalies; Multiple congenital anomalies/Mental retardation; Paraplegia; Strabismus
Disease Mechanism & Classification
Class: CLASS/Jablonski/NIH Archive Anomalies Database; CLASS/Pediatric disorders (ex)
Pathophysiology: Pathophysiology/Gene locus Chromosome X.; Pathophysiology/Gene locus Chromosome Xq; Pathophysiology/Gene locus Xq28
: Pathophysiology/Maternal Chromosome mutation
Process: PROCESS/Eponymic (category); PROCESS/Genetic disorder/Spontaneous mutations/sporadic; PROCESS/Hereditofamilial (category); PROCESS/INCIDENCE/Rare disease (ex); PROCESS/Sex-linked (X-linked) recessive inheritance (ex)
: PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym: Adducted thumbs Mental retardation syndrome, Synonym/Bianchine-Lewis syndrome, Synonym/Clasped thumbs-mental retardation syndrome, Synonym/Gareis-Mason syndrome
Definition: Be the first to add a definition for Adducted thumbs-Mental retardation syndrome
External Links Related to Adducted thumbs-Mental retardation syndrome: Google; 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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