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15 Possible Causes for Agenesis of Corpus Callosum, Muscle Twitch, Proximally Placed Thumb

  • Aicardi's Syndrome

    Aicardi's syndrome, which is characterized by agenesis of the corpus callosum, specific chorioretinal abnormalities, and defects of vertebrae and ribs, is considered a probable[ncbi.nlm.nih.gov] Abstract Aicardi's syndrome is the association of three main features: infantile spasms, chorioretinopathia with lacunae and agenesis of the corpus callosum.[ncbi.nlm.nih.gov] A 12-year-old mentally handicapped female has all the characteristics of the syndrome: agenesis of the Corpus callosum; female infant with mental handicap, epilepsy, characteristic[ncbi.nlm.nih.gov]

  • X-linked Distal Spinal Muscular Atrophy Type 3

    Glossary Amyotrophy -Muscle wasting or weakness Atrophy -when motor neurons in the cord are damaged the muscles become weak and shrink in size Fasciculations -muscle twitching[childneurologyfoundation.org] Individuals with XLAG may also have agenesis of the corpus callosum.[chginc.org] […] set thumb - Scoliosis - Short neck - Short / small nose - Simian crease / transverse / unique palmar crease - Undescended / ectopic testes / cryptorchidia / unfixed testes[csbg.cnb.csic.es]

  • Neurogenic Arthrogryposis Multiplex Congenita

    "The next step, we think, is when we could put small motors in these joints that the child would control with either a twitch of the muscle or perhaps a laser.[cnn.com] The spectrum of diagnosis found encompasses agyria-pachygyria, neuronal migration abnormalities, agenesis of the corpus callosum, hypoplasia of the brainstem and cerebellum[archive.rsna.org] placed thumbs HPO:9623 – 2 1 – – 1 3/5 Camptodactyly HPO:1215 – 5 2 – – 1 3/5 Ulnar deviation of the finger HPO:9465 – 3 1 – – 1 3/5 Proximally placed toes HPO:1780 – 4 1[ncbi.nlm.nih.gov]

  • Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome

    "The next step, we think, is when we could put small motors in these joints that the child would control with either a twitch of the muscle or perhaps a laser.[cnn.com] Other features are agenesis of corpus callosum (20%), congenital heart diseases (10%), sensory neural deafness, spontaneous life threatening bleeding and hypothyroidism [[casereports.in] placed thumbs, and cryptorchidism; all, except cryptorchidism, have been noted previously. 2 5 7 8 Table 3 Features in patients from the current series and those reported[adc.bmj.com]

  • Arthrogryposis Multiplex Congenita

    "The next step, we think, is when we could put small motors in these joints that the child would control with either a twitch of the muscle or perhaps a laser.[cnn.com] Brain magnetic resonance imaging in the index case revealed very thin brain mantle with agyria-pachygyria, agenesis of the corpus callosum, and hypoplasia of the brainstem[cags.org.ae] placed thumbs HPO:9623 – 2 1 – – 1 3/5 Camptodactyly HPO:1215 – 5 2 – – 1 3/5 Ulnar deviation of the finger HPO:9465 – 3 1 – – 1 3/5 Proximally placed toes HPO:1780 – 4 1[ncbi.nlm.nih.gov]

  • Dursun Syndrome

    twitching), hypertonia (increase tone in lower extremities), peripheral hypertonia •Ataxia, loss of coordination, tremor (greater in legs),muscular rigidity, Babinski’s sign[omicsonline.org] […] of the corpus callosum; mental retardation (61 %) ocular abnormalities (59 %): microphthalmia, coloboma, choristomas, epibulbar tumors cardiovascular abnormalities (12 %)[sites.uclouvain.be] Facial dysmorphism with hypertelorism, a broad nasal bridge and a high-arched palate, malformations of the hand with long fingers, proximally placed thumbs and a single palmar[symptoma.com]

  • SHORT Syndrome

    […] temperature (hyperthermia), muscle twitching and stiffness, and other symptoms.[rarediseases.org] Patient 12 had an MRI scan, which showed cerebral ventriculomegaly, partial agenesis corpus callosum and loss of white matter in the periventricular regions.[nature.com] Intrauterine growth retardation, prominent philtrum, proximally placed thumbs, oligodactyly, and phocomelia are more frequent in de lange syndrome, while craniosynostosis,[icd10data.com]

  • Hypotonia-Failure to Thrive-Microcephaly Syndrome

    […] to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills).[nipd.com] There was associated partial agenesis of the corpus callosum.[iamg.in] Intrauterine growth retardation, prominent philtrum, proximally placed thumbs, oligodactyly, and phocomelia are more frequent in de lange syndrome, while craniosynostosis,[icd10data.com]

  • Spastic Paraplegia - Ataxia - Mental Retardation

    Apraxia (Medical Encyclopedia) Hand or foot spasms (Medical Encyclopedia) Muscle atrophy (Medical Encyclopedia) Muscle function loss (Medical Encyclopedia) Muscle twitching[icdlist.com] The Andermann syndrome: Agenesis of the corpus callosum associated with mental retardation and progressive sensorimotor neuropathy.[repository.countway.harvard.edu] placed thumbs; [Feet]; Short feet; Broad hallux; Long hallux MUSCLE, SOFT TISSUE: Hypotonia; Brisk deep tendon reflexes; Ankle clonus NEUROLOGIC: [Central nervous system][findzebra.com]

  • Craniosynostosis with Ocular Abnormalities and Hallucal Defects

    […] weakness and atrophy Type 1: onset 0-6mos, muscle weakness, tongue fasiculations (twitches), absent DTRs, never sit by them selves, pass away by age 2 Type 2: onset after[quizlet.com] CURRY-JONES SYNDROME; CRJS Is also known as craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development;corpus callosum agenesis-polysyndactyly[mendelian.co] Micromelia disproportionately affecting the upper limb, including ulnar dysgenesis, radial head dislocation, oligodactyly, proximally placed thumb, clinodactyly of smallest[musculoskeletalkey.com]

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