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2,080 Possible Causes for High Peaks of Upper Lip Vermilion Border, Muscle Hypotonia, Relative Macrocephaly in Childhood

  • Legius Syndrome

    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] Absolute or relative macrocephaly has been seen in children and adults with Legius syndrome.[ncbi.nlm.nih.gov]

  • Multiple Congenital Anomalies - Hypotonia - Seizures Type 3

    The key elements of the clinical phenotype are absolute or relative macrocephaly with a long narrow face; tall forehead; dolicocephalic head shape; an open mouth; small, simple[nature.com] Peripheral hypotonia that may affect any place between the spinal cord and muscle.[news-medical.net] […] and muscle weakness.[pedsinreview.aappublications.org]

    Missing: High Peaks of Upper Lip Vermilion Border
  • Beckwith-Wiedemann Syndrome

    macrocephaly, triangular face and feeding difficulties in early childhood [ 2, 3 ].[bmcmedgenet.biomedcentral.com] […] a major cause of Silver Russell syndrome (SRS: OMIM 180860), characterized by intrauterine and postnatal growth restriction and a variable expression of limb asymmetry, relative[bmcmedgenet.biomedcentral.com]

    Missing: High Peaks of Upper Lip Vermilion Border
  • Hyponatremia

    BACKGROUND: To investigate the prognostic value of hyponatremia, defined as serum sodium level METHODS: We performed a retrospective analysis of the RN patients (The patients included in our study had a history of primary cancers including nasopharyngeal carcinoma/glioma/oral cancer and received radiotherapy[…][ncbi.nlm.nih.gov]

    Missing: High Peaks of Upper Lip Vermilion Border Relative Macrocephaly in Childhood
  • Noonan Syndrome

    hypotonia is common, although hypotonia generally improves with time.[touchendocrinology.com] – decreased muscle tone, which can mean it takes your child a bit longer to reach early developmental milestones undescended testicles – in boys with Noonan syndrome, one[nhs.uk] Low or weak muscle tone 0001252 Scoliosis Abnormal curving of the spine 0002650 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 5%-29% of people have these symptoms[rarediseases.info.nih.gov]

    Missing: Relative Macrocephaly in Childhood
  • Duchenne Muscular Dystrophy

    , 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] Review Topic QID: 2232 1 Pseudohypertrophy of the calves, markedly increased creatine kinase levels, and abnormal dystrophin 2 Proximal muscle weakness occuring early in childhood[orthobullets.com]

    Missing: High Peaks of Upper Lip Vermilion Border Relative Macrocephaly in Childhood
  • Benzodiazepine Overdose

    (lack of muscle tone) Blurry vision Difficulty breathing or depressed breathing Stupor or unresponsiveness Hallucinations Hypotension (lowered blood pressure) Coma Death[americanaddictioncenters.org] Drowsiness or extreme fatigue Confusion, agitation, anxiety, and mood changes Dizziness Slurred speech or acting drunk Amnesia Physical weakness or lack of coordination Hypotonia[americanaddictioncenters.org]

    Missing: High Peaks of Upper Lip Vermilion Border Relative Macrocephaly in Childhood
  • Celiac Disease

    The child has failure to thrive , apathy, anorexia, pallor, generalized hypotonia, abdominal distention, and muscle wasting.[merckmanuals.com]

    Missing: High Peaks of Upper Lip Vermilion Border Relative Macrocephaly in Childhood
  • Leigh's Disease

    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] Hypotonia (low muscle tone and strength), dystonia (involuntary, sustained muscle contraction), and ataxia (lack of control over movement) are often seen in people with Leigh[en.wikipedia.org]

    Missing: High Peaks of Upper Lip Vermilion Border Relative Macrocephaly in Childhood
  • Early Infantile Epileptic Encephalopathy Type 2

    Learning problems (intellectual disabilities), developmental delay, and low muscle tone (hypotonia) are also usually seen in children who have this condition.[diseaseinfosearch.org] Other signs and symptoms may include intellectual disability, reduced muscle tone ( hypotonia ), hypsarrhythmia (an irregular pattern seen on EEG ), dyskinesia (involuntary[rarediseases.info.nih.gov] (low muscle tone) Dystonia (abnormal muscle tone) Spastic quadriparesis EEG shows burst suppression pattern EEG shows multifocal epileptic activity Hyperintensities in the[kcnq2cure.org]

    Missing: High Peaks of Upper Lip Vermilion Border Relative Macrocephaly in Childhood

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