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4,013 Possible Causes for Basal Cell Carcinoma, Muscle Hypotonia, Relative Macrocephaly in Childhood

  • Legius Syndrome

    Gorlin Syndrome (nevoid basal cell carcinoma syndrome) Risk of developing cancerous and noncancerous tumors, most often basal cell carcinoma, less often meduloblastoma during[scielo.br] The number of café au lait macules increases with age in childhood, similar to what is observed in NF1 [Author, personal observation]. Macrocephaly.[ncbi.nlm.nih.gov] XLID-optic atrophy (AGTR2) Arts, PRPP synthetase superactivity (PRPS1) XLID-short stature-muscle wasting (NXF5) Mitochondrial encephalopathy (NDUFA1) 23 21.2 21.3 22.1 22.2[vdocuments.net]

  • Cerebellotrigeminal Dermal Dysplasia

    Seite 86 - Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 1996;85: 841-851. ‎[books.google.de] Malformations of motor centers in the brain cause reduced muscle strength(Hypotonia).[en.wikipedia.org] cell carcinoma (Gorlin) syndrome Multiple endocrine neoplasia type 2B Turcot syndrome Degos disease (Malignant atrophic papulosis) Ataxia-telangiectasia Nijmegen breakage[chipsbooks.com]

    Missing: Relative Macrocephaly in Childhood
  • Hyponatremia

    The rate increased across virtually all types of cancers, except melanoma and basal cell carcinomas.[ncbi.nlm.nih.gov] Motor delays and waddling gait have been attributed to muscle hypotonia. In severe cases, impaired hearing can develop over time.[biodonsys.com] Some infants have diminished muscle tone (hypotonia), so that a baby appears “floppy”, attributable to elevated levels of calcium in the blood (hypercalcemia).[rarediseases.org]

    Missing: Relative Macrocephaly in Childhood
  • Muscular Dystrophy-Dystroglycanopathy Type C4

    cell carcinoma, multiple BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7 Becker muscular dystrophy Beckwith-Wiedemann syndrome Benign scapuloperoneal muscular dystrophy with cardiomyopathy[pentacorelab.hu] Fukuyama congenital muscular dystrophy is a more severe disorder characterized by brain malformations, hypotonia and muscle weakness.[sema4genomics.com] Signs and symptoms are often present before birth but sometimes start in infancy and include weak muscle tone (hypotonia), excess fluid on the brain (hydrocephalus), severe[natera.com]

    Missing: Relative Macrocephaly in Childhood
  • Duchenne Muscular Dystrophy

    […] superfamily: AGM3, 6 Integrin: LAD1 Glanzmann's thrombasthenia Junctional epidermolysis bullosa with pyloric atresia EDAR (EDAR hypohidrotic ectodermal dysplasia) PTCH1 (Nevoid basal-cell[en.wikipedia.org] , absent deep tendon reflexes and fasciculations 3 Mildly elevated creatine kinase levels, severe limb contractures present at an early age 4 Acute onset of weakness, hypotonia[orthobullets.com] carcinoma syndrome) BMPR1A (BMPR1A juvenile polyposis syndrome) IL2RG (X-linked severe combined immunodeficiency) See also cell surface receptors v t e Diseases of collagen[en.wikipedia.org]

    Missing: Relative Macrocephaly in Childhood
  • Mulibrey Nanism Syndrome

    Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 1996; 85 :841–851. 24. Kurotaki N, Imaizumi K, Harada N, et al.[nature.com] Muscle hypotonia is frequently seen and newborns often have characteristic abnormalities of the head and face including a triangularly shaped face.[rarediseases.org] Additional clinical features include hepatomegaly, muscle hypotonia, J-shaped sella turcica, yellowish dots in the ocular fundi, hypoplasia of various endocrine glands, insulin[genecards.org]

    Missing: Relative Macrocephaly in Childhood
  • Leigh's Disease

    , and rectum; basal cell carcinoma; leukemia; lymphoproliferative disorders such as Castleman syndrome; and Hodgkin lymphoma.[emedicine.medscape.com] An 11-month-old boy with muscle hypotonia and neurologic deteriorations had lactic acidosis, pyruvic acidemia and alaninemia due to deficiency of the pyruvate dehydrogenase[ncbi.nlm.nih.gov] At 14 months, his developmental milestones slowed and muscle hypotonia appeared.[ajnr.org]

    Missing: Relative Macrocephaly in Childhood
  • Zori-Stalker-Williams Syndrome

    Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome.[link.springer.com] […] nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental[orpha.net] Motor development is delayed due to muscle hypotonia and is associated with unusual clumsiness.[findzebra.com]

  • Lenz-Majewski Syndrome

    Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet, 1997. ‎[books.google.es] Hypotonia Bones And Joints Hyperostosis Diaphyseal Undermodeling Of Long Bones Thickening Of Midshaft Cortices Hypoostosis Of Metaphyses And Epiphyses Related: L[neo-genetics.com] cell nevus syndrome (BCNS) [MIM: 109400 ] Basal cell carcinoma (BCC) [MIM: 605462 ] Holoprosencephaly 7 (HPE7) [MIM: 610828 ] PTDSS1 P48651 non-pleiotropic Lenz-Majewski[sbg.bio.ic.ac.uk]

    Missing: Relative Macrocephaly in Childhood
  • Wiedemann-Rautenstrauch Syndrome

    Seite 86 - Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 1996;85: 841-851. ‎[books.google.de] In addition, in many cases, infants and children with the disorder lack head control, exhibit diminished muscle tone (hypotonia), and have an impaired ability to coordinate[rarediseases.org] Página 369 - Nevoid basal cell carcinoma syndrome in a person with dark skin. J Am Acad Dermatol 2003; 49: 332-5 LeSueur BW, Silvis NG, Hansen RC.[books.google.es]

    Missing: Relative Macrocephaly in Childhood

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