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101 Possible Causes for Agenesis or Hypoplasia of the Corpus Callosum, Sloping Shoulders

  • Craniofrontonasal Dysplasia

    shoulders Rounded shoulders Rounded, sloping shoulders Sloping shoulders [ more ] 0200021 Facial asymmetry Asymmetry of face Crooked face Unsymmetrical face [ more ] 0000324[rarediseases.info.nih.gov] callosum hypoplasia or agenesis, and developmental delay but without severe mental deficiency.[karger.com] Axillary pterygia Bipartite clavicle Brachycephaly Brachydactyly Broad hallux Camptodactyly of finger Clinodactyly of the 5th finger Craniosynostosis Down-sloping shoulders[familydiagnosis.com]

  • Frontonasal Dysplasia

    Of unknown genesis are two subsets of frontonasal dysplasia patients: 1) the combination of agenesis of the corpus callosum, tibial hypoplasia, and hallucal duplication and[ncbi.nlm.nih.gov] shoulder, widely and asymmetrically placed nipple Click here to view Figure 1b: Shoulders were rounded and sloping and could be proximated anteriorly close to the midline[mjdrdypu.org] […] occipital encephalocoele, corpus callosum agenesis and Dandy-Walker malformation.[ncbi.nlm.nih.gov]

  • Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome

    […] of the corpus callosum, pontine hypoplasia, focal white matter changes, hypotonia, mental retardation, and minor anomalies View more[documentslide.com] Micrognathia and sloping shoulders may mimic atypical progeroid phenotype.[medcraveonline.com] callosum agenesis-intellectual disability syndrome Spinocerebellar ataxia 15 MAN1B1-CDG Ichthyosis cheek eyebrow syndrome Wolf-Hirschhorn syndrome Intellectual disability[checkrare.com]

  • CHARGE Syndrome

    Although certain clinical issues (scapular winging, sloping shoulder, Sprengel's deformity, kyphosis and scoliosis) which could be related to abnormalities in musculoskeletal[ncbi.nlm.nih.gov] Central nervous system (CNS) defects involve cerebral atrophy, corpus callosum agenesis, posterior fossa anomalies and cerebellar hypoplasia.[orpha.net] Feature Includes Frequency Chronic Ear Problems Lots of infections, fluid in the ears, PE tubes until teens 85% Sloping Shoulders Underdeveloped shoulder muscles, small or[chargesyndrome.org]

  • Hamamy Syndrome

    shoulders pterygium colli Skeletal Skull: craniosynostosis (in some patients) Head And Neck Eyes: laterally sparse eyebrows severe hypertelorism myopia, progressive severe[malacards.org] callosum agenesis- intellectual disability-coloboma- micrognathia syndrome 2 Cases 459074 Corpus callosum agenesis- macrocephaly-hypertelorism syndrome 4 Cases 1389 Cortical[azkurs.org] shoulders Rounded shoulders Rounded, sloping shoulders Sloping shoulders [ more ] 0200021 Frontal bossing 0002007 High, narrow palate Narrow, high-arched roof of mouth Narrow[rarediseases.info.nih.gov]

  • Ruijs Aalfs Syndrome

    Abnormality of the nose Hypoplasia of the corpus callosum Hypoplasia of the pons Long eyelashes Low anterior hairline Hypsarrhythmia Narrow forehead Broad nasal tip Thick[mendelian.co] Down-sloping shoulders MedGen UID: 346461 • Concept ID: C1856872 • Finding Low set, steeply sloping shoulders.[ncbi.nlm.nih.gov] […] to Ruijs-Aalfs syndrome include: Triangular face Bulbous nose Prominent nasal bridge Frontal bossing Delayed skeletal maturation Skeletal muscle atrophy Weight Loss Down-sloping[familydiagnosis.com]

  • Oculo-Palato-Cerebral Syndrome

    Note the slender neck and the sloping shoulders. 416 F R Y D M A N E T A L focal atrophy at the left temporal lobe and moderate ventricular dilatation. Flg. 2.[myslide.es] In addition, one patient has bilateral ... 460 Thrombocytopenia-absent radius (tar) syndrome: a case with agenesis of corpus callosum, hypoplasia ...[biomedsearch.com] callosum agenesis-abnormal genitalia syndrome Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome Corpus callosum agenesis-neuronopathy syndrome[se-atlas.de]

  • Microangiopathy

    These may include a sideways and front-to-back curvature of the spine (kyphoscoliosis), narrow and/or sloping shoulders, underdeveloped collarbones (hypoplastic clavicles)[rarediseases.org] Additional brain anomalies such as hypoplasia/agenesis of the corpus callosum, occipital encephalocele, and Dandy-Walker malformation have been described.[ojoonline.org] Brain abnormalities include migrational defect with type II lissencephaly (cobblestone type), hydrocephalus, vermal or general cerebellar hypoplasia, and flat brainstem with[ojoonline.org]

  • Gingival Fibromatosis-Progressive Deafness Syndrome

    shoulders Micrognathia Convex nasal ridge Abnormal facial shape Prominent forehead Onycholysis Cataract Infertility Acrania Reduced number of teeth Conductive hearing impairment[mendelian.co] callosum agenesis-intellectual disability syndrome Spinocerebellar ataxia 15 MAN1B1-CDG Ichthyosis cheek eyebrow syndrome Wolf-Hirschhorn syndrome Intellectual disability[checkrare.com] […] hair Erythema Macrocephaly Rare Symptoms - Less than 30% cases Relative macrocephaly Ridged nail Ectodermal dysplasia Hyperhidrosis Pain Bird-like facies Growth delay Down-sloping[mendelian.co]

  • Trisomy 8q

    * Hirsuitism * Agenesis of corpus callosum * Seizures * Abnormal EEG * Congenital heart defects * Kidney abnormalities * Hydronephrosis * Undescended testes * Small penis[checkorphan.org] shoulders * Narrow pelvis Causes - Chromosome 8- trisomy 8q Not supplied.[checkorphan.org] Plantar furrows * Palmar furrows * Joint contractures * Abnormal patellae * Absent patellae * Kyphosis * Scoliosis * Reduced muscle tone * Redundant skin * Aplasia * Toenail hypoplasia[checkorphan.org]

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