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248 Possible Causes for Agenesis of Corpus Callosum, Cranial Asymmetry, Failure to Thrive

  • Wolf-Hirschhorn Syndrome

    asymmetry Droopy eyelids Dental abnormalities DImple at the base of spine Aside from the possibly physical properties due to Wolf-Hirschhorn syndrome, patients diagnosed[wiki.ggc.edu] 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] […] of the corpus callosum, bilateral renal hypoplasia, and two atrial septal defects.[ncbi.nlm.nih.gov]

  • Septo-Optic Dysplasia

    When plagiocephaly is severe, insertion of a ventriculoperitoneal shunt may help to dampen the pulsations and reverse the cranial asymmetry.  Addendum  A new version of[slideshare.net] Marshall-Smith syndrome is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation.[ncbi.nlm.nih.gov] An uncommon association of infantile spasms, septo-optic dysplasia, partial agenesis of the corpus callosum and an interhemispheric cyst is described in a child.[ncbi.nlm.nih.gov]

  • Saethre-Chotzen Syndrome

    The features of the syndrome include: turriplagiocephaly with a cranial circumference of 52 cm, facial asymmetry, low hairline, proptosis, antimongoloid slanting of palpebral[ncbi.nlm.nih.gov] Additional manifestations include stunted growth,mental deficiency, central nervous system anomalies (agenesis of corpus callosum, hydrocephalus, gyral anomalies), acne, vertebral[rrnursingschool.biz] Generally it is accepted that individuals should undergo a cranioplasty within the first year of life; this helps prevent progressive facial asymmetry, increased inter-cranial[wiki.ggc.edu]

  • Autosomal Recessive Primary Microcephaly Type 10

    […] ossification Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome Desbuquois syndrome Desmosterolosis Developmental and speech delay due to SOX5 deficiency[se-atlas.de] Other features include hypotonia, poor growth, lactic acidosis, and failure to thrive. The disorder may be fatal in early childhood (summary by Haack et al., 2013 ).[mendelian.co] Of The Corpus Callosum With Peripheral Neuropathy ... ...[familydiagnosis.com]

  • 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] asymmetry 0000267 Cryptorchidism Undescended testes Undescended testis [ more ] 0000028 Dermal translucency 0010648 Failure to thrive Faltering weight Weight faltering [[rarediseases.info.nih.gov]

  • Craniosynostosis

    The adverse effects associated with surgical correction of craniosynostosis include cerebrospinal fluid leak, injury to the brain, wound healing problems, cranial asymmetry[cancertherapyadvisor.com] Congenital hyperthyroidism can be a cause of failure to thrive, hyperactivity, developmental delay, and craniosynostosis during infancy.[ncbi.nlm.nih.gov] Intracranial anomalies include megalocephaly, hypoplastic white matter, and agenesis of the corpus callosum, leading to cognitive impairment.[aafp.org]

  • Schinzel-Giedion Syndrome

    […] suture closure Craniofacial asymmetry Broad eyebrow Bilateral sensorineural hearing impairment Hammertoe Arnold-Chiari type I malformation Pericarditis Tapered finger Pointed[mendelian.co] […] to thrive.[checkorphan.org] Agenesis of the corpus callosum and laryngeal stenosis were determined at autopsy.[ncbi.nlm.nih.gov]

  • Kaufman Oculocerebrofacial Syndrome

    asymmetry Thrombocytopenia Arthritis Unilateral cleft lip Stroke Paralysis Small hand Short metacarpal Aciduria Neutropenia Hypoplasia of the maxilla Highly arched eyebrow[mendelian.co] thrive, eye abnormalities, other congenital malformations, low cholesterol levels, and severe intellectual disability.[ncbi.nlm.nih.gov] MRI scan showed partial agenesis of the corpus callosum and a frontal midline mass, thought to be a lipoma (Supplementary Fig. 1).[docksci.com]

  • Monosomy 1p36 Syndrome

    […] imaging has documented cerebral atrophy, ventricular asymmetry, and ventricular enlargement. 9-12 16 17 Hydrocephalus has occurred in two children. 4 18 One report found[jmg.bmj.com] Hypotonia and feeding difficulties with failure to thrive were observed since birth. His weight was only 6kg until 1 year of age.[enlivenarchive.org] Affiliated tissues include brain, heart and eye, and related phenotypes are agenesis of corpus callosum and intellectual disability Genetics Home Reference : 26 1p36 deletion[malacards.org]

  • Infantile Choroidocerebral Calcification Syndrome

    […] global developmental delay Slow progression Ventriculomegaly Abnormality of the upper limb Motor delay Sensorineural hearing impairment Nystagmus Muscle cramps Abnormal cranial[mendelian.co] […] 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]

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