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88 Possible Causes for Agenesis of Corpus Callosum, Feeding Difficulties, 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] (diarrhea, constipation, reflux and feeding difficulties), small hands, and curvature of the spine (scoliosis).[diseaseinfosearch.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]

  • 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] Feeding difficulties in children with SLOS are correlated with plasma sterol concentrations, suggesting a link between the biochemical severity of SLOS and feeding function[ncbi.nlm.nih.gov] placed thumbs.[orpha.net]

  • Blepharophimosis - Intellectual Disability Syndrome Type Verloes

    […] of the corpus callosum.[nature.com] difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the[mendelian.co] [ more ] 0005280 Dilated cardiomyopathy Stretched and thinned heart muscle 0001644 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Epicanthus inversus 0000537 Feeding[rarediseases.info.nih.gov]

  • 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] difficulties Feeding problems Poor feeding [ more ] 0011968 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Global developmental delay 0001263[rarediseases.info.nih.gov] difficulties, global developmental delay, behavioral difficulties, and language delay.[gene.sfari.org]

  • Mowat-Wilson Syndrome

    […] of the corpus callosum.[symptoma.com] Treatments are focused on the breathing, feeding, and choking difficulties.[syndromespedia.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]

  • Autosomal Dominant Mental Retardation Type 21

    Some ID syndromes are associated with gross brain malformations (e.g. holoprosencephaly, schizencephaly, porencephaly, hydrocephalus, agenesis of corpus callosum, and cerebellar[f1000research.com] Feeding difficulties have been reported while anal atresia is present in about half of patients.[disorders.eyes.arizona.edu] Intrauterine growth retardation, prominent philtrum, proximally placed thumbs, oligodactyly, and phocomelia are more frequent in de lange syndrome, while craniosynostosis,[icd10data.com]

  • 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] Chromosome 16q deletion syndrome is mainly characterized by developmental delay, craniofacial anomalies, hypotonia, failure to thrive, feeding difficulties, mental retardation[tmj.ro] 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]

  • Tracheoesophageal Fistula

    We report the first case of CPAM type I, co-existing with tracheo-esophageal fistula and corpus callosum agenesis.[ncbi.nlm.nih.gov] difficulties and respiratory distress in the first few days of life.[ncbi.nlm.nih.gov] Limb anomalies (hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb).[lecturio.com]

  • Dubowitz Syndrome

    Corpus Callosum 9 terms Aphalangia 26 terms Heart 28 terms seizures THIS SET IS OFTEN IN FOLDERS WITH... 23 terms Cataracts 8 terms Syndromes with Coloboma 25 terms Syndromes[quizlet.com] These include: Inflammation and itching of the skin (eczema) Susceptibility to viral infections Allergies Chronic diarrhea or constipation Feeding difficulties and vomiting[encyclopedia.com] Hand size was 50th percentile for 4 years with brachycUnodactyly and proximally placed thumbs. Generalized limitation of joint mobility was present.[healio.com]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    callosum, agenesis of, with abnormal genitalia ARX Cortical malformations, occipital LAMC3 Costello syndrome HRAS Cousin syndrome TBX15 Craniodiaphyseal dysplasia, autosomal[centogene.com] Feeding difficulty, Recurrent vomiting, poor sucking, prolonged feeding. Can lead to failure to thrive.[pedclerk.bsd.uchicago.edu] 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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