Create issue ticket

744 Possible Causes for Agenesis of Corpus Callosum, Congenital Eye Anomaly, Failure to Thrive

  • Septo-Optic Dysplasia

    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] Other ocular malformations were anterior segment dysgenesis in the right eye and congenital cataract or lens abnormality in the left eye.[ncbi.nlm.nih.gov]

  • Congenital Optic Disc Coloboma

    Clinical presentations include hypopituitarism, the commonest being growth hormone deficiency presenting as short stature, failure to thrive, hypoglycemia, developmental delay[ijri.org] Morning glory disc is associated with coloboma-renal sysndrome, trisomy 4q, optic nerve hypolasia and poor vision, midline intracranial malformations (agenesis of the corpus[advancedradteaching.com] Isolated and total optic disc coloboma is a markedly rare congenital anomaly of the eye.[ncbi.nlm.nih.gov]

  • 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] MRI showed diffuse pachygyria, moderate thickening of the cortex, enlarged ventricles, agenesis of the corpus callosum and septum pellucidum.[ncbi.nlm.nih.gov] Lissencephaly is a genetic heterogeneous autosomal recessive disorder characterized by the classical triad: brain malformations, eye anomalies, and congenital muscular dystrophy[ncbi.nlm.nih.gov]

  • Hallermann-Streiff Syndrome

    She had a history of severe snoring, reported nocturnal apnea, excessive daytime hypersomnolence, nocturnal enuresis, and failure to thrive.[ncbi.nlm.nih.gov] […] of the corpus callosum. ( 16225817 ) Sigirci A....Yakinci C. 2005 35 Non-lethal Hallermann-Streiff syndrome with bone fracture: report of a case. ( 15581837 ) Ertekin V..[malacards.org] Hallermann-Streiff syndrome is a rare congenital disorder characterized as a complex association of developmental anomalies involving structures of ectodermal origin (the[ncbi.nlm.nih.gov]

  • TORCH Syndrome

    Dandy–Walker malformation (DWM), in addition to posterior fossa large cyst, cerebellar vermis hypoplasia, and hydrocephalus is often associated with agenesis of the corpus[asianjns.org] Anterior segment anomalies and retinal dysplasia have been described with muscle-eye-brain disease, Walker–Warburg syndrome, and Fukiyama congenital muscular dystrophy where[nature.com] Hepatosplenomegaly, hematological abnormalities, agenesis of the corpus callosum, and hepatocellular changes similar to the present case have been reported previously(2,4,6[indianpediatrics.net]

  • CHARGE Syndrome

    ., agenesis of the corpus callosum).[encyclopedia.com] In this report, we describe a patient with a typical phenotype characterized by psychomotor retardation, hypertrichosis, facial asymmetry, synophria, failure to thrive, developmental[ncbi.nlm.nih.gov] A male neonate presented with CHARGE syndrome, a multiorgan genetic disorder involving the Coloboma of the eyes, congenital Heart defects, nasal choanal Atresia, growth and[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] […] of the corpus callosum.[symptoma.com] Additional findings include structural brain abnormalities, eye defects, congenital heart defects, Hirschsprung disease (HSCR), and genitourinary anomalies.[ncbi.nlm.nih.gov]

  • Congenital Iris Coloboma

    […] to thrive Alopecia Neoplasm Optic atrophy Chorioretinal coloboma Stage 5 chronic kidney disease Nevus Highly arched eyebrow Polycystic kidney dysplasia Long face Nephropathy[mendelian.co] MAPGROUP 3 6011000124106 MAPTARGET 6011000124106 MAPADVICE IF AGENESIS OF CORPUS CALLOSUM, INTELLECTUAL DISABILITY, COLOBOMA, MICROGNATHIA SYNDROME CHOOSE M26.09 MAP OF SOURCE[bioportal.bioontology.org] Other congenital malformations of anterior segment of eye Q13.81 Rieger's anomaly Q13.89 Other congenital malformations of anterior segment of eye Q13.9 Congenital malformation[icd10coded.com]

  • Velocardiofacial Syndrome

    Poor feeding and failure to thrive may result secondary to severe cardiac anomalies and congestive cardiac failure.[symptoma.com] Abstract We report a patient with clinical and cytogenetic findings consistent with DiGeorge-velocardiofacial syndrome and agenesis of the corpus callosum.[ncbi.nlm.nih.gov] Congenital heart defects or diseases.[syndromepictures.com]

  • Sanjad-Sakati Syndrome

    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] It is characterized by the association of congenital hypothyroidism, growth retardation, psychomotor retardation, epilepsy, dysmorphic features (microcephaly, facial, eye,[ncbi.nlm.nih.gov]

Similar symptoms