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60 Possible Causes for Agenesis of Corpus Callosum, Cognitive Developmental Delay, 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] […] development, moderate to severe global developmental delay, and difficult-to-treat epilepsy, although Grosso et al. (2007) reported a case of Aicardi syndrome with normal[aao.org] 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]

  • Goldberg-Shprintzen Syndrome

    Since agenesis of the corpus callosum is the only MWS feature that can be detected prenatally, molecular screening of the ZEB2 gene in prenatal isolated agenesis of the corpus[ojrd.biomedcentral.com] placed thumbs, phalangeal hypotubulation and sclerosis, hip subluxation, femur fracture, genu recurvatum, talipes equinovarus, metatarsus adductus, congenital bowing of the[ncbi.nlm.nih.gov] Other associated congenital anomalies include cerebral (agenesis of the corpus callosum), cardiac (patent ductus arteriosus,ventricular septal defect, valvular pulmonary stenosis[orpha.net]

  • Chromosome 17p13.1 Deletion Syndrome

    Syndrome (aka: Agenesis of Corpus Callosum and Chorioretinal Abnormality; Agenesis of Corpus Callosum With Chorioretinitis Abnormality; Agenesis of Corpus Callosum With Infantile[docs.google.com] Most have hypotonia, constipation, and partial agenesis of the corpus callosum.[mendelian.co] CallosumAgenesis of the Corpus Callosum (aka: Absence of the corpus callosum; Hypogenesis of the corpus callosum; Dysplastic corpus callosum)Yes1/24/2017Aicardi SyndAicardi[docs.google.com]

  • Smith Lemli Opitz Syndrome

    […] of corpus callosum, cerebellar vermis dysgenesis, cataracts, cleft palate, many different forms of congenital heart defect, pyloric stenosis and/or Hirschsprung dysganglionosis[ncbi.nlm.nih.gov] ., sibling B in this case report), persons with SLOS often have significant behavioral issues and cognitive and developmental delays that require a team approach by parents[ncbi.nlm.nih.gov] placed thumbs.[orpha.net]

  • Waisman Syndrome

    […] of the corpus callosum with peripheral neuropathy 218000 S LC16A2 Xq13.2 Allan-Herndon-Dudley syndrome 300523 S LC17A5 6q13 Salla disease 604369 Sialic acid storage disorder[institutobernabeu.com] delay, cognitive impairment, macroencephaly, and, in some, seizures; EO parkinsonism with tremor appeared subsequently as the presenting symptom.[ng.neurology.org] The thumb was proximal- ly placed. There was bilateral syndactyly of the 2nd and 3rd toes.[dokumen.tips]

  • Mowat-Wilson Syndrome

    […] of the corpus callosum.[symptoma.com] Developmental. Educational intervention and speech therapy beginning in infancy because of the high risk for motor, cognitive, speech, and language delay Ophthalmologic.[ncbi.nlm.nih.gov] […] that did not require surgery, ulnar deviation of the hands, proximally placed thumbs, delayed bone age, significant scoliosis, and camptodactyly [ Mowat et al 2003 , Adam[ncbi.nlm.nih.gov]

  • Pachygyria-Mental Retardation-Seizures

    […] of corpus callosum is evident.[universeradiology.com] […] outcome, the term “developmental delay” has been used to characterize the developmental status of children under age three.[aafp.org] , short broad thumbs, proximally placed thumbs, adducted thumbs (positional), 1 st –2 nd finger syndactyly, distal phalanges of fingers hypoplasia, camptodactyly, delayed[ojrd.biomedcentral.com]

  • Opitz-Kaveggia Syndrome

    .: Hereditary partial agenesis of corpus callosum. Arch. Neurol. 11, 198–208 (1964) Google Scholar 6.[doi.org] Intrauterine growth retardation, prominent philtrum, proximally placed thumbs, oligodactyly, and phocomelia are more frequent in de lange syndrome, while craniosynostosis,[icd10data.com] See Heritability: X-linked recessive inheritance AKA: Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, and Partial Agenesis of Corpus Callosum, Fg Syndrome[monarchinitiative.org]

  • Partial Monosomy 18q

    Milder forms include absent olfactory tracts and bulbs, agenesis of corpus callosum, hypopituitarism and minor facial features (hypo- or hypertelorism, flat nasal bridge)[ojrd.biomedcentral.com] The features of Pitt-Hopkins include developmental delays, cognitive impairment, breathing abnormalities, and seizures. Read more about Pitt Hopkins Syndrome.[chromosome18.org] placed thumbs 33 Chorea 3 Nystagmus 30 Gap between 1st & 2nd toe 3 Palate abnormality 30 Low posterior hairline 3 Cleft 12 Scoliosis 3 High arched 15 Strawberry birthmark[labmed.hallym.ac.kr]

  • Syndromic Microphthalmia 11

    MRI may reveal optic nerve aplasia/hypoplasia, hippocampal malformations, structural abnormalities of the pituitary gland, and agenesis of the corpus callosum.[orpha.net] placed thumbs, short distal phalanges - - - 1B (sister of 1A) 16q11.1q12.1 550 band karyotype ND Proximally placed thumbs, short distal phalanges - - 2 16q11.2q21 CGH/FISH[bmcmedgenet.biomedcentral.com] Acronym MCOPS11 Synonyms Microphthalmia with corpus callosum agenesis and orofacial clefting Keywords Any medical or genetic information present in this entry is provided[uniprot.org]

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