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3,808 Possible Causes for Failure to Thrive, Lack of Developmental Milestones, Mutation in the VPS53 Gene

  • Growth Failure

    Some children who fail to thrive exhibit the following symptoms: lack of weight gain delays in reaching developmental milestones, such as rolling over, crawling, and talking[healthline.com] Presentation on theme: "Faltering growth(failure to thrive)"— Presentation transcript: 1 Faltering growth(failure to thrive) refers to not only failure of growth(suboptimal[slideplayer.com] Failure to thrive has many possible causes. In some cases, more than one thing may cause it. A baby or child may not be taking in enough nutrients and calories.[childrensnational.org]

    Missing: Mutation in the VPS53 Gene
  • Valinemia

    Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening.[malacards.org] PCH2E ( OMIM ) is caused by mutation in the VPS53 gene ( OMIM ) on chromosome 17p13. PCH2F ( OMIM ) is caused by mutation in the TSEN15 gene ( OMIM ) on chromosome 1q25.[mendelian.co] Related phenotypes are muscle weakness and failure to thrive Wikipedia : 76 Hypervalinemia, also called valinemia or valine transaminase deficiency, is a rare autosomal recessive[malacards.org]

    Missing: Lack of Developmental Milestones
  • Autosomal Recessive Primary Microcephaly Type 10

    PCH2E ( OMIM ) is caused by mutation in the VPS53 gene ( OMIM ) on chromosome 17p13. PCH2F ( OMIM ) is caused by mutation in the TSEN15 gene ( OMIM ) on chromosome 1q25.[mendelian.co] Other features include hypotonia, poor growth, lactic acidosis, and failure to thrive. The disorder may be fatal in early childhood (summary by Haack et al., 2013 ).[mendelian.co] PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.[worldwidescience.org]

    Missing: Lack of Developmental Milestones
  • Familial Infantile Bilateral Striatal Necrosis

    Diseases related with Failure to thrive and Optic atrophy In the following list you will find some of the most common rare diseases related to Failure to thrive and Optic[mendelian.co] […] to thrive, myoclonus, quadriparesis, cerebellar ataxia and nystagmus.[orpha.net] The clinical features of IBSN include developmental regression, choreoathetosis, dystonia, spasticity, dysphagia, failure to thrive, nystagmus, optic atrophy, and mental retardation[genome.jp]

    Missing: Lack of Developmental Milestones
  • Pyruvate Carboxylase Deficiency

    Lack of normal developmental milestones. Microcephaly. Poor vision and inability to track a moving object. Disconjugate gaze. Ataxia. Fits.[patient.info] Diagnosis PC deficiency is suspected in individuals with failure to thrive, developmental delay, recurrent seizures, and metabolic acidosis.[rarediseases.org] Also periodic hypoglicemia, failure to thrive, vomiting and hypotonia and ataxia. i don't know why ataxia but that's it. drpkaur Forum Junior Topics: 197 Posts: 813 Aug 15[prep4usmle.com]

    Missing: Mutation in the VPS53 Gene
  • Hypotonia-Failure to Thrive-Microcephaly Syndrome

    PCH2E is caused by changes (mutations) in the VPS53 gene and is inherited in an autosomal recessive manner.[nipd.com] Lack of normal developmental milestones. Microcephaly. Poor vision and inability to track a moving object. Disconjugate gaze. Ataxia. Fits.[patient.info] […] rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.[orpha.net]

  • Freeman-Sheldon Syndrome

    The lack of any developmental milestones, the acquired microcephaly, failure to thrive, and early death are manifestations of the postnatal downhill course in this disorder[jmg.bmj.com] The combination of these manifestations leads to an increased susceptibility to dental crowding, dysphagia, failure to thrive, and impaired speech.[symptoma.com] […] to thrive, normal IQ, short stature, scoliosis, camptodactyly with ulnar deviation—‘windmill hands’—talipes equinovarus or clubfoot Freeman, Ernest A., English orthopedic[medical-dictionary.thefreedictionary.com]

    Missing: Mutation in the VPS53 Gene
  • Kaufman Oculocerebrofacial Syndrome

    Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual[rarediseases.oscar.ncsu.edu] thrive, eye abnormalities, other congenital malformations, low cholesterol levels, and severe intellectual disability.[ncbi.nlm.nih.gov] […] to thrive / difficulties for feeding in infancy / growth delay - High vaulted / narrow palate - Long face - Macrostomia / big mouth - Microcornea - Muscle weakness / flaccidity[csbg.cnb.csic.es]

    Missing: Mutation in the VPS53 Gene
  • Disorders of Pyruvate Metabolism and Gluconeogenesis

    Lack of normal developmental milestones. Microcephaly. Poor vision and inability to track a moving object. Disconjugate gaze. Ataxia. Fits.[patient.info] It presents with hypoglycemia, failure to thrive, metabolic acidosis, muscle weakness, and hepatomegaly.[icd10data.com] […] to thrive In neuromuscular forms, hypotonia and muscle atrophy Treatment: None known For cirrhosis, liver transplantation, which treats the primary disease as well GSD V[msdmanuals.com]

    Missing: Mutation in the VPS53 Gene
  • Esophagitis

    It presents with failure to thrive, nausea, and vomiting in children and is a common reason for dysphagia and food impaction in adults.[ncbi.nlm.nih.gov] Dysphagia Chest or upper abdominal pain Food stuck in the esophagus Heartburn that doesn’t respond to medication Regurgitation In children: vomiting, poor weight gain or failure[nm.org] In infants, this disease may be associated with failure to thrive. In some situations, avoiding certain food allergens will be an effective treatment for EoE.[aarda.org]

    Missing: Lack of Developmental Milestones Mutation in the VPS53 Gene

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