Create issue ticket

22 Possible Causes for Agenesis of Corpus Callosum, Failure to Thrive, Mild-Moderate Ventricular Dilatation

  • Sanjad-Sakati Syndrome

    All patients showed mild to severe mental retardation. CT brain showed mild to moderate ventricular dilation in six patients and intracranial calcification in one.[cags.org.ae] We encountered a 2-year-old boy with hypocalcemia, failure to thrive and macrocytic anemia.[ncbi.nlm.nih.gov] Partial Agenesis of Corpus Callosum in Sanjad-Sakati Syndrome (p-ACC) To send this article to your Dropbox account, please select one or more formats and confirm that you[cambridge.org]

  • Schinzel-Giedion Syndrome

    ventricular dilatation ENDOCRINE FEATURES: Low parathyroid hormone; Congenital hypoparathyroidism IMMUNOLOGY: Normal cell mediated immunity; Recurrent bacterial infections[findzebra.com] […] to thrive.[checkorphan.org] Agenesis of the corpus callosum and laryngeal stenosis were determined at autopsy.[ncbi.nlm.nih.gov]

  • Infantile Choroidocerebral Calcification Syndrome

    Accompanying ventricular dilatation often present.  MRI: T1 - isointense to grey matter, heterogenous T1 C - mild-moderate heterogeneous enhancement T2/FLAIR - typically[slideshare.net] […] to thrive Sensorineural hearing impairment SOURCES: MONDO SCTID ORPHANET MESH GARD OMIM More info about RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS Low[mendelian.co] Also seen in corpus callosum agenesis.[ultrasound-images.com]

  • Costello Syndrome

    Mild-moderate aortic dilation not associated with bicuspid aortic valve is a recent cardiovascular finding [ Lin et al 2011 ] that occurs in approximately 5% of affected individuals[ncbi.nlm.nih.gov] We present a 7 months old child with severe failure to thrive whose "subtle" facial dysmorphism at the time eluded clinical recognition of the syndrome.[ncbi.nlm.nih.gov] Antenatal diagnosis Detection of hypertelorism, agenesis of the corpus callosum, and either CDH or omphalocele by prenatal imaging should raise suspicion of DBS.[orpha.net]

  • Hypotonia-Failure to Thrive-Microcephaly Syndrome

    Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central[mendelian.co] […] rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.[orpha.net] There was associated partial agenesis of the corpus callosum.[iamg.in]

  • Alpers Syndrome

    Echocardiogram demonstrating left ventricular noncompaction, left ventricular dilation with LVIDD of 29 mm, poor contractility with LVFS of 13%, and moderate mitral regurgitation[jpccs.jp] Mangalat, N, Tatevian, N, Bhattacharjee, MB & Rhoads, JM 2012, ' Alpers syndrome: An unusual etiology of failure to thrive ', Ultrastructural Pathology , vol. 36, no. 4, pp[uthealth.influuent.utsystem.edu] CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA Coloboma, downslanting palpebral fissures XLR IGBP1 #300472 COSTEFF SYNDROME Optic atrophy[eyewiki.aao.org]

  • Atrioventricular Septal Defect

    […] valve ring of 26mm, moderate left atrioventricular valve regurgitation, mild right atrioventricular valve regurgitation, with favorable clinical conditions despite a mild[scielo.br] The main symptoms are feeding problems, failure to thrive and frequent pulmonary infections. The symptoms are similar to those caused by a large VSD.[dhzb.de] callosum agenesis Hydrops fetalis Echogenic bowel Trisomy 21 17 AVSD Single AV valve Tetralogy of Fallot Enlarged nuchal Fold Hydronephrosis Skeletal dysplasia Trisomy 21[ncbi.nlm.nih.gov]

  • Pseudo-Zellweger Syndrome

    MRI showed hydrocephalus with ventricular dilation and a mild delay in myelination.[doi.org] Common symptoms include hypoglycemia, hyperlactacidemia, severe generalized hypotonia, myopathy, cardiomyopathy, failure to thrive, cardiac failure, circulatory collapse,[ommbid.mhmedical.com] The most severe forms of these MCDs are associated with cerebellar hypoplasia and agenesis of the corpus callosum.[neuropathology-web.org]

  • Cerebro-Oculo-Facio-Skeletal Syndrome Type 2

    Ventricular dilation was scored in the same way. Fig 1. Patient 6 at 6 years of age (CS I).[ajnr.org] Marked failure to thrive and repeated lower respiratory infections led to death within the first three years of life.[onlinelibrary.wiley.com] Symptoms Neuro: Agenesis of corpus callosum; Hypotonia HEENT: Telecanthus; Short palpebral fissures; Small nose; Anteverted nares; Pierre Robin sequence; Abnormally shaped[findzebra.com]

  • Aplasia or Hypoplasia of Halluces

    Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central[mendelian.co] Failure to thrive is common and seizures have been reported. Males may have micropenis and hypospadias while females have been described with labial fusion.[disorders.eyes.arizona.edu] callosum , connecting the two sides of the brain, in Agenesis of the corpus callosum Cerebellum caused by mutation in the Reelin gene Tooth caused by oral pathology , such[en.wikipedia.org]

Similar symptoms