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92 Possible Causes for Agenesis of Corpus Callosum, 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] 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] A 12-year-old mentally handicapped female has all the characteristics of the syndrome: agenesis of the Corpus callosum; female infant with mental handicap, epilepsy, characteristic[ncbi.nlm.nih.gov]

  • 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] placed thumbs.[orpha.net] She had microcephaly with hypoplastic cerebral frontal lobes and cerebellum, agenesis of the splenium of corpus callosum, abnormal facies including hypertelorism with bilateral[ncbi.nlm.nih.gov]

  • Mowat-Wilson Syndrome

    […] of the corpus callosum.[symptoma.com] […] 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] […] 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]

  • 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] 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] Severe malformations of the brain associated with facial features such as cyplopia, cebocephaly, premaxillary agenesis, bilateral cleft lip and palate are present in 10–15[ojrd.biomedcentral.com]

  • Congenital Iris Coloboma

    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] , 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] Associations CHARGE syndrome encephalocoele agenesis of the corpus callosum Jacobsen syndrome Treacher-Collins syndrome : rare Roberts syndrome : rare Gorlin-Goltz syndrome[radiopaedia.org]

  • Gorlin-Chaudhry-Moss Syndrome

    CT scan identified agenesis of the corpus callosum. At age 21 she had moderate mental retardation and spoke in short phrases with unclear speech.[nature.com] Otopalatodigital syndrome type I (OPD1): Digital anomalies including short, often proximally placed thumbs with hypoplasia of the distal phalanges.[vivavoceoralmedicineradiology.com] […] of the corpus callosum Cleft lip/palate ectodermal dysplasia Cartilage hair hypoplasia Witkop syndrome Uncombable hair, retinal pigmentary dystrophy, dental anomalies, brachydactyly[wikidoc.org]

  • Syndromic Microphthalmia Type 10

    […] of the optic nerve, agenesis of the corpus callosum, developmental delay, joint laxity, hypotonia, and seizures.[malacards.org] 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] […] of corpus callosum 0001274 Cryptorchidism Undescended testes Undescended testis [ more ] 0000028 Hearing impairment Deafness Hearing defect [ more ] 0000365 Visual loss Loss[rarediseases.info.nih.gov]

  • Blepharophimosis - Intellectual Disability Syndrome Type Verloes

    […] of the corpus callosum.[nature.com] […] of corpus callosum Micromelia Ambiguous genitalia Sandal gap Aplasia/Hypoplasia of the corpus callosum Holoprosencephaly Adrenal hypoplasia Barrel-shaped chest Depressed[mendelian.co] Callosum, Agenesis Of, With Abnormal Genitalia Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardationsyndrome Craniofacial Dysmorphism, Skeletal Anomalies,[familydiagnosis.com]

  • 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]

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