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910 Possible Causes for Agenesis of Corpus Callosum, Failure to Thrive, Muscle Hypotonia

  • Lissencephaly

    Symptoms of the disorder may include unusual facial appearance, difficulty swallowing, failure to thrive, muscle spasms, seizures, and severe psychomotor retardation.[ninds.nih.gov] Children who are born with lissencephaly suffer from severe motor impairment, seizures, muscle spasticity, muscle hypotonia, facial abnormalities, difficulty swallowing, abnormalities[disabilitybenefitscenter.org] MRI showed diffuse pachygyria, moderate thickening of the cortex, enlarged ventricles, agenesis of the corpus callosum and septum pellucidum.[ncbi.nlm.nih.gov]

  • Marshall-Smith Syndrome

    We describe a 5 year old patient with this rare syndrome, who has optic atrophy and agenesis of the corpus callosum, but has no respiratory problems so far.[ncbi.nlm.nih.gov] It is hoped that the etiology of the syndrome will be discovered as more cases are recognized and reported by pediatricians caring for infants with failure to thrive, advanced[ncbi.nlm.nih.gov] Other symptoms include diminished muscle tone (hypotonia), muscle weakness, hernias in the abdomen (umbilical hernias), and/or mental retardation.[rarediseases.org]

  • Lenz-Majewski Syndrome

    The disorder is characterized by failure to thrive and mental retardation.[doi.org] Hypotonia Bones And Joints Hyperostosis Diaphyseal Undermodeling Of Long Bones Thickening Of Midshaft Cortices Hypoostosis Of Metaphyses And Epiphyses Related: L[neo-genetics.com] […] of corpus callosum 0001274 Bifid uvula 0000193 External genital hypoplasia Underdevelopment of external reproductive organs 0003241 High, narrow palate Narrow, high-arched[rarediseases.info.nih.gov]

  • Wolf-Hirschhorn Syndrome

    Accordingly, prenatal-onset growth retardation and failure to thrive have been found to result from haploinsufficiency for a 4p gene located between 0.4 and 1.3 Mb, whereas[ncbi.nlm.nih.gov] Generalized muscle hypotonia was observed at birth.[ncbi.nlm.nih.gov] […] of the corpus callosum, bilateral renal hypoplasia, and two atrial septal defects.[ncbi.nlm.nih.gov]

  • Mowat-Wilson Syndrome

    Symptons may include: Growth and Motor development delay : speech can be delayed or absent; Seizures in the majority of individuals ( Epilepsy ); Failure to thrive in early[specialeducationalneeds.co.uk] Low or weak muscle tone 0001252 Open mouth Gaped jawed appearance Gaped mouthed appearance Slack jawed appearance [ more ] 0000194 Posteriorly rotated ears Ears rotated toward[rarediseases.info.nih.gov] […] of the corpus callosum.[symptoma.com]

  • Acrocallosal Syndrome

    A seven year old female with severe developmental delays, failure to thrive and growth retardation, infantile spasms, a cardiac vascular ring and right-sided aortic arch,[ncbi.nlm.nih.gov] Affected individuals may have developmental delay, intellectual disability, slow growth leading to short stature, and weak muscle tone (hypotonia).[diseaseinfosearch.org] The diagnosis of acrocallosal syndrome was arrived at after neuroimaging showed agenesis of corpus callosum with interhemispheric cysts.[ncbi.nlm.nih.gov]

  • Wiedemann-Rautenstrauch Syndrome

    Dandy Walker malformation and ventriculomegaly, basal ganglia calcification, and agenesis of corpus callosum were reported.[rarediseases.org] […] to thrive, short stature, widely open cranial sutures, a progeria-like appearance, hypotonia, pseudohydrocephalus, lipoatrophy, and mental retardation.[whonamedit.com] Both showed an improvement in motor function, although hypotonia, muscle weakness, hypoplasia, strange posture, difficulty in eating and respiratory dysfunction were remained[ci.nii.ac.jp]

  • Methylmalonic Acidemia

    See a provider if your child has signs of failure-to-thrive or developmental delays. A low-protein diet can help reduce the number of acidemia attacks.[nlm.nih.gov] 8), muscle hypotonia (n 8), recurrent vomiting (n 4), tremor (n 2), ataxia (n 2), and abnormal posture (n 1).The onset age of seizure ranged from 8 days to 11 years.[ncbi.nlm.nih.gov] Additional brain anomalies such as hypoplasia/agenesis of the corpus callosum, occipital encephalocele, and Dandy-Walker malformation have been described.[ojoonline.org]

  • Monosomy 1p36 Syndrome

    Hypotonia and feeding difficulties with failure to thrive were observed since birth. His weight was only 6kg until 1 year of age.[enlivenarchive.org] Affected individuals usually have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia).[malacards.org] Hypotonia may also delay sitting, crawling and walking. Muscle tone often improves with age and with physical therapy.[1p36dsa.org]

  • Leigh's Disease

    Constitutional symptoms, such as malaise, fatigue, anorexia and failure to thrive are present in many patients, while respiratory and gastrointestinal disturbances such as[symptoma.com] An 11-month-old boy with muscle hypotonia and neurologic deteriorations had lactic acidosis, pyruvic acidemia and alaninemia due to deficiency of the pyruvate dehydrogenase[ncbi.nlm.nih.gov] In the other case, there was an agenesis of the corpus callosum, the second instance in which a malformation of the corpus callosum was associated with this condition.[ncbi.nlm.nih.gov]

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