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21 Possible Causes for Agenesis of Corpus Callosum, Failure to Thrive, Pseudoepiphyses of the Metacarpals

  • Wolf-Hirschhorn Syndrome

    Accordingly, prenatal-onset growth retardation and failure to thrive have been found to result from haploinsufficiency for a 4p gene located between 0.4 and 1.3 Mb, whereas[ncbi.nlm.nih.gov] […] of the corpus callosum, bilateral renal hypoplasia, and two atrial septal defects.[ncbi.nlm.nih.gov] Clinical manifestations of WHS include intrauterine growth restriction, failure to thrive in the neonatal period that is present simultaneously with hypotonia, typical "Greek[ncbi.nlm.nih.gov]

  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    […] of the metacarpals 0009193 Radial bowing Bowing of outer large bone of the forearm 0002986 Short 1st metacarpal Shortened 1st long bone of hand 0010034 Short distal phalanx[rarediseases.info.nih.gov] […] to thrive ; Femoral bowing ; Heterotopia ; Hip contracture ; Hip dislocation ; Hyperkeratosis ; Hypoplasia of the frontal lobes ; Hypoplastic ilia ; Intellectual disability[mousephenotype.org] […] of the corpus callosum or cerebellar vermis.[orpha.net]

  • Microcephalic Osteodysplastic Primordial Dwarfism Types 1 and 3

    […] of the metacarpals 0009193 Radial bowing Bowing of outer large bone of the forearm 0002986 Short 1st metacarpal Shortened 1st long bone of hand 0010034 Short distal phalanx[rarediseases.info.nih.gov] […] to thrive ; Femoral bowing ; Heterotopia ; Hip contracture ; Hip dislocation ; Hyperkeratosis ; Hypoplasia of the frontal lobes ; Hypoplastic ilia ; Intellectual disability[mousephenotype.org] Immediate radiological findings may include partial or complete agenesis of the corpus callosum, interhemispheric cyst and shallow acetabula leading to dislocation.[casereports.bmj.com]

  • Coffin-Lowry Syndrome

    […] of the metacarpals 0009193 Redundant skin Loose redundant skin Redundant skin folds Sagging, redundant skin [ more ] 0001582 Short distal phalanx of finger Short outermost[rarediseases.info.nih.gov] Other findings can include failure to thrive, feeding difficulties, short stature, ophthalmologic abnormalities, microcephaly and hearing loss.[dnatesting.uchicago.edu] Abstract We describe a boy with the syndrome of Coffin-Lowry whose CT-scan showed corpus callosum agenesis.[ncbi.nlm.nih.gov]

  • Hypertrichotic Osteochondrodysplasia

    […] of the corpus callosum , see Andermann syndrome hereditary motor neuronopathy , see spinal muscular atrophy hereditary mucosal leukokeratosis , see white sponge nevus hereditary[herenciageneticayenfermedad.blogspot.com] […] to thrive- microcephaly syndrome 2 Cases 55654 Hypotrichosis simplex 38 Cases 1573 Hypotrichosis with juvenile macular degeneration 50 Cases 330029 Hypotrichosis-deafness[azkurs.org] […] of the metacarpals Bifid sternum Thickened calvaria Retinopathy Pachygyria Sparse scalp hair Hypopigmentation of the skin Tetralogy of Fallot Neuronal loss in central nervous[mendelian.co]

  • Dyggve-Melchior-Clausen Syndrome

    […] of the corpus callosum with peripheral neuropathy FREM1 Manitoba manitoba oculotrichoanal syndrome SIL1 marinesco sjogren marinesco sjogren syndrome TRIM37 mulibrey mulibrey[dokumen.tips] Tubular bones of hand were short and irregularly contoured, but they did not show pseudoepiphyses.[dev.docslide.net] […] martsolf martsolf syndrome ORC1 1 meier gorlin syndrome 1 CDT1 4 meier gorlin syndrome 4 MKKS mckusick kaufman mckusick kaufman syndrome LPIN2 majeed majeed syndrome SLC12A6 agenesis[dokumen.tips]

  • Autosomal Recessive Non-Syndromic Hydrocephalus

    […] of the metacarpals Retinoschisis Stooped posture Broad finger Cataplexy Abnormality of digit Soft skin Joint hypermobility Abnormal form of the vertebral bodies Abnormality[mendelian.co] Those who survive childbirth present with general failure to thrive, bone marrow failure or characteristic facies.[radiopaedia.org] Children with agenesis of corpus callosum. Dev Med Child Neurol 1968; 10: 613-616. 3. Jeret JS, Serur D, Wisniewski K, Fish C.[neurosciencesjournal.org]

  • 3M Syndrome Type 1

    callosum, agenesis of, with abnormal genitalia, Epileptic encephalopathy, Hydranencephaly with abnormal genitalia, Lissencephaly, Mental retardation, Partington syndrome,[genda.com.ar] Growth and puberty : Failure to thrive is very common in children with RSS, due to a combination of feeding difficulties and gastrointestinal problems, such as reflux.[rarediseases.org] Other findings include dolichocephaly, flattened coronal suture, narrowed intraorbital distance, elbow dysplasia, shortened ulna, pseudoepiphyses of the second metacarpal[ncbi.nlm.nih.gov]

  • Short Stature - Optic Atrophy - Pelger-Huët Anomaly Syndrome

    A neonate with the Pelger-Huët anomaly, cleft lip and palate, and agenesis of the corpus callosum, with a chromosomal microdeletion involving 1q41 to 1q42.12.[emedicine.medscape.com] Clinical features include anemia, renal tubulopathy, developmental delay, seizures, failure to thrive, and liver steatosis and fibrosis. {ECO:0000269 PubMed:26073778}.[genecards.org] […] of first metacarpals, hypoplastic metacarpals, hypoplastic cervical vertebrae with suspected subluxation • recurrent infections: sepsis, pneumonia, otitis media, sinusitis[epostersonline.com]

  • Enamel Hypoplasia Cataracts and Aqueductal Stenosis

    […] of the metacarpals Myopathy Hyperreflexia Neoplasm of the middle ear Need help with a diagnosis?[mendelian.co] Visually self-limited but may need airway support if severe, failure to thrive.[cram.com] A genesis of the corpus callosum Agenesis of the corpus callosum (ACC) is a birth defect in which the structure that connects the two hemispheres of the brain (the corpus[2ndbattalion94thartillery.com]

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