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13 Possible Causes for Flat Occiput, Tyrosine Increased

  • Neonatal Jaundice

    […] nasal bridge, macroglossia, flattened occiput First 2–3 days Down syndrome (possible duodenal atresia, Hirschsprung disease, intestinal obstruction, wide spacing between[merckmanuals.com] […] nasal bridge, macroglossia, flattened occiput First 2–3 days Down syndrome (possible duodenal atresia, Hirschsprung disease , intestinal obstruction, wide spacing between[merckmanuals.com] Accumulates 5 mg/dL ( 86 mcmol/L) Maternofetal or fetofetal transfusion, delayed umbilical cord clamping Head and neck examination Bilateral slanting palpebral fissures, flat[merckmanuals.com]

  • Cap Myopathy

    Dysmorphic craniofacial features include progressive microcephaly, flat occiput, widened inner canthal distance, small palpebral fissures, ptosis, long and straight eyelashes[panelapp.genomicsengland.co.uk] Some people have seen mild improvements in secretion handling, energy level, and physical functioning with supplemental L-tyrosine, an amino acid that is available through[en.wikipedia.org] Muscle loss increases with age naturally, but it is even more significant with nemaline myopathy. [25] Current research [ edit ] New research resources have become available[en.wikipedia.org]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    Clinical features include microbrachycephaly with a flat occiput, and characteristic facies including epicanthal folds, a flat nasal bridge, small mouth with protruding tongue[hawaii.edu] All mutations are missense changes and cluster at the interacting portions of the amino-terminal src-homology 2 (N-SH2) and protein tyrosine phosphatase (PTP) domains.[flipper.diff.org] This increase in protein activity disrupts the regulation of the RAS -MAPK signaling pathway and this misregulation can result in heart defects, growth problems, skeletal[flipper.diff.org]

  • Deletion of the Long Arm of Chromosome 18

    Nystagmus (abnormal eye movements)/Strabismus (eyes not aligned) Flat occiput (flat back of head) High-arched palate (roof of mouth is higher than normal) Micrognathia (small[9pminus.org] Depigmentation, pink eyes, increased risk of skin cancer. Alkaptonuria Nitrogen Metabolism Defect Autosomal Recessive.[kumc.edu] Tyrosinase deficiency ------ inability to synthesize melanin from tyrosine. Can result from a lack of migration of neural crest cells.[kumc.edu]

  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    Clinical features include microbrachycephaly with a flat occiput, and characteristic facies including epicanthal folds, a flat nasal bridge, small mouth with protruding tongue[hawaii.edu] Depigmentation, pink eyes, increased risk of skin cancer. Alkaptonuria Nitrogen Metabolism Defect Autosomal Recessive.[kumc.edu] Tyrosinase deficiency ------ inability to synthesize melanin from tyrosine. Can result from a lack of migration of neural crest cells.[kumc.edu]

  • Wolf Hirschhorn Syndrome

    , epicanthal folds, small nose, flat nasal bridge, flat face, small dysplastic pinnae, protruding tongue Cardiac : congenital heart defects ( AVSD , VSD, Tetralogy of Fallot[pathophys.org] It makes a fusion protein that causes increased tyrosine kinase activity that leads to Chronic Myelogenous Leukemia (CML). T/F.[quizlet.com] Depigmentation, pink eyes, increased risk of skin cancer. Alkaptonuria Nitrogen Metabolism Defect Autosomal Recessive.[kumc.edu]

  • Osteogenesis Imperfecta Congenita - Microcephaly - Cataracts Syndrome

    Macroscopic appearance external features: postnatal growth retardation, microcephaly, receding forehead, flat occiput, deep-set eyes, broad nasal bridge, low set ears, micrognathia[atlases.muni.cz] Depigmentation, pink eyes, increased risk of skin cancer. Alkaptonuria Nitrogen Metabolism Defect Autosomal Recessive.[kumc.edu] occiput and facies, rounded ears, and slanted palpebral fissures.[aafp.org]

  • Hypotonia-Failure to Thrive-Microcephaly Syndrome

    […] of auricle and external auditory canal Cardiac anomalies Cleft palate Short Stature Behavioural problems DOWN SYNDROME(TRISOMY 21)- Short Stature Hypotonia Microcephaly Flat[paediatricks.com] Depigmentation, pink eyes, increased risk of skin cancer. Alkaptonuria Nitrogen Metabolism Defect Autosomal Recessive.[kumc.edu] Clinical features include microbrachycephaly with a flat occiput, and characteristic facies including epicanthal folds, a flat nasal bridge, small mouth with protruding tongue[hawaii.edu]

  • Thanatophoric Dysplasia 2

    There is a characteristic facial appearance: disproportionally wide head with flat occiput, full high forehead, underdeveloped midface with receded cheekbones (midfacial hypoplasia[ojrd.biomedcentral.com] This is also manifested by increased biological signaling, increased tyrosine phosphorylation, and in vitro kinase activity associated with dimeric receptors.[cgd.aacrjournals.org] […] kinase independently of ligands, leading to decreased apoptosis and increased proliferation [ 3 ].[omicsonline.org]

  • Nemaline Myopathy Type 7

    occiput or congenital dislocation of the hips, arthrogryposis 14.[slideshare.net] Some people have seen mild improvements in secretion handling, energy level, and physical functioning with supplemental L-tyrosine, an amino acid that is available through[en.wikipedia.org] […] suspension  Vertical suspension test – feeling of ‘slipping through the hands’ when the infant is held under the arms  Various associated examination findings such as flat[slideshare.net]

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