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54 Possible Causes for Agenesis of Corpus Callosum, Anteverted Nostril, 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

    Facial anomalies, which include wide and flat nasal bridge, small sized nose with an upturned tip or pug nose, anteverted nostrils, undersized jaw (micrognathia), the ear[syndromespedia.com] […] 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]

  • Chromosome 17p13.1 Deletion Syndrome

    […] nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Autosomal dominant inheritance 0000006 Broad hallux Broad big toe Wide big toe[rarediseases.info.nih.gov] 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]

  • Blepharophimosis - Intellectual Disability Syndrome Type Verloes

    The recognisable facial appearance is characterised by sparse and laterally broad eyebrows, upslanting and narrow palpebral fissures, telecanthus, anteverted nostrils with[jmg.bmj.com] […] of the corpus callosum.[nature.com] […] notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted[mendelian.co]

  • Goldberg-Shprintzen Syndrome

    nostrils, skeletal and urogenital abnormalities) syndromes have similar facial features to those of G-P syndrome and are sometimes complicated by Hirschprung disease.[pediatricneurologybriefs.com] 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]

  • Ring Chromosome 15

    In addition to postnatal growth delay, she had scant frontal hair, small eyes, hypertelorism, low-set of ears, flattened nasal bridge, anteverted nostrils, down-turned mouth[ncbi.nlm.nih.gov] Furthermore agenesis of the corpus callosum is reported for the first time in 9p syndrome, 2.Ring chromosome 13 syndrome in an adult male with mild mental retardation ABSTRACT[matsuishi-lab.org] GTG banding manifestations include hypotonia, foot deformation, karyotype in our patient revealed that the 18p11.32 proximally placed thumbs, arthritis/stenotic ear and canals[docksci.com]

  • Gorlin-Chaudhry-Moss Syndrome

    […] that open to the front rather than downward (anteverted nares).[vivavoceoralmedicineradiology.com] 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] […] of the corpus callosum Cleft lip/palate ectodermal dysplasia Cartilage hair hypoplasia Witkop syndrome Uncombable hair, retinal pigmentary dystrophy, dental anomalies, brachydactyly[wikidoc.org]

  • Dursun Syndrome

    nostrils, an arched palate, a large mouth and low implanted large ears.[sites.uclouvain.be] […] of the corpus callosum; mental retardation (61 %) ocular abnormalities (59 %): microphthalmia, coloboma, choristomas, epibulbar tumors cardiovascular abnormalities (12 %)[sites.uclouvain.be] Facial dysmorphism with hypertelorism, a broad nasal bridge and a high-arched palate, malformations of the hand with long fingers, proximally placed thumbs and a single palmar[symptoma.com]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    nostrils, long philtrum, thin upper lip and prominent anteverted ears.[ojrd.biomedcentral.com] callosum, agenesis of, with abnormal genitalia ARX Cortical malformations, occipital LAMC3 Costello syndrome HRAS Cousin syndrome TBX15 Craniodiaphyseal dysplasia, autosomal[centogene.com] Intrauterine growth retardation, prominent philtrum, proximally placed thumbs, oligodactyly, and phocomelia are more frequent in de lange syndrome, while craniosynostosis,[icd10data.com]

  • Hypotonia-Failure to Thrive-Microcephaly Syndrome

    nostrils, terminal hypoplasia of toes, deeply grooved philtrum, macroglossia, anteverted/prominent/b at ears, hypoplastic/s mall nostrils, round face, abnormal plantar creases[chr7.org] There was associated partial agenesis of the corpus callosum.[iamg.in] Intrauterine growth retardation, prominent philtrum, proximally placed thumbs, oligodactyly, and phocomelia are more frequent in de lange syndrome, while craniosynostosis,[icd10data.com]

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