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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[] (diarrhea, constipation, reflux and feeding difficulties), small hands, and curvature of the spine (scoliosis).[] Abstract Aicardi's syndrome is the association of three main features: infantile spasms, chorioretinopathia with lacunae and agenesis of the corpus callosum.[]

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

  • Blepharophimosis - Intellectual Disability Syndrome Type Verloes

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

  • 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[] difficulties Feeding problems Poor feeding [ more ] 0011968 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Global developmental delay 0001263[] difficulties, global developmental delay, behavioral difficulties, and language delay.[]

  • Mowat-Wilson Syndrome

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

  • 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[] Feeding difficulties have been reported while anal atresia is present in about half of patients.[] Intrauterine growth retardation, prominent philtrum, proximally placed thumbs, oligodactyly, and phocomelia are more frequent in de lange syndrome, while craniosynostosis,[]

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

  • Tracheoesophageal Fistula

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

  • 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[] These include: Inflammation and itching of the skin (eczema) Susceptibility to viral infections Allergies Chronic diarrhea or constipation Feeding difficulties and vomiting[] Hand size was 50th percentile for 4 years with brachycUnodactyly and proximally placed thumbs. Generalized limitation of joint mobility was present.[]

  • 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[] Feeding difficulty, Recurrent vomiting, poor sucking, prolonged feeding. Can lead to failure to thrive.[] Intrauterine growth retardation, prominent philtrum, proximally placed thumbs, oligodactyly, and phocomelia are more frequent in de lange syndrome, while craniosynostosis,[]

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