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27 Possible Causes for 'Doll Like' Facies

  • Glycogen Storage Disease Type 1

    , xanthomatosis, abnormal bleeding, bleeding tendency, decreased glomerular filtration rate, decreased muscle mass, underdeveloped muscles, delayed pubertal development, doll-like[xpertdox.com] facies Doll-like facial appearance 0000295 Elevated hepatic transaminase High liver enzymes 0002910 Enlarged kidney Large kidneys 0000105 Focal segmental glomerulosclerosis[rarediseases.info.nih.gov] […] disease Nephropathy Diabetes mellitus Splenomegaly Rare Symptoms - Less than 30% cases Lipemia retinalis Pain Oral ulcer Anemia Tics Protuberant abdomen Enlarged kidney Doll-like[mendelian.co]

  • Infantile Choroidocerebral Calcification Syndrome

    High palate Osteoarthritis Genu valgum Platyspondyly Kyphoscoliosis Delayed skeletal maturation Skeletal muscle atrophy Hydrocephalus Short stature Coarse facial features Doll-like[mendelian.co] Spasticity Arrhythmia Febrile seizures Paresthesia Postnatal growth retardation Hypoglycemia Diabetes mellitus Abnormality of the lower limb Fatigue Growth delay Short stature Doll-like[mendelian.co] facies Macrotia Nonprogressive encephalopathy Abnormal CNS myelination Metaphyseal enchondromatosis Hypertonia Dysphagia Skin ulcer Long face Abnormal cerebellum morphology[mendelian.co]

  • Glycogen Storage Disease due to GLUT2 Deficiency

    We report a 3-year-old boy from southern India who presented with doll-like facies, florid rickets, massive hepatomegaly, growth retardation, renomegaly and laboratory evidence[scinapse.io]

  • Citrullinemia Type 2

    Doll Like facies… What is it ?[slideshare.net] Ammonia :119 (Normal:11-47) GAL1PUT & Epimerase normal Persisting: Doll like facies Organomegaly AST/ALT: 253/180 T.[slideshare.net] like facies Organomegaly Growth failure Jan 2012 (3 ½ yrs) 9.[slideshare.net]

  • Microcephalic Primordial Dwarfism due to ZNF335 Deficiency

    […] corpus callosum Hypermetropia Lissencephaly Heterotopia Pachygyria Sloping forehead Polymicrogyria Agenesis of corpus callosum Abnormal facial shape Coarctation of aorta Doll-like[mendelian.co] facies Need help with a diagnosis?[mendelian.co]

  • Glycogen Storage Disease

    Doll-like facies was noted in 90%. Abdominal examination of all cases revealed abdominal distention and soft hepatomegaly which had bright echogenicity by ultrasound.[ncbi.nlm.nih.gov] Other physical findings include truncal obesity, doll-like facies, short stature, and hypotrophic muscles.[doi.org]

  • Disorder of Fructose Metabolism

    […] and/or conduction blocks Post-prandial hyperglycemia Lactic acidosis Hepatomegaly (with hepatic adenomas ) Severe fasting hypoglycemia, mild ketosis Severe hyperlipidemia doll-like[amboss.com] facies Hyperuricemia Lactic acidosis Anemia Failure to thrive Nephritic syndrome ( FSGS type) Delayed puberty Osteoporosis Neutropenia oral ulcers, GI infections (only in[amboss.com]

  • Glycogen Storage Disease due to Phosphoglycerate Kinase 1 Deficiency

    […] and/or conduction blocks Post-prandial hyperglycemia Lactic acidosis Hepatomegaly (with hepatic adenomas ) Severe fasting hypoglycemia, mild ketosis Severe hyperlipidemia doll-like[amboss.com] facies Hyperuricemia Lactic acidosis Anemia Failure to thrive Nephritic syndrome ( FSGS type) Delayed puberty Osteoporosis Neutropenia oral ulcers, GI infections (only in[amboss.com]

  • Macrocephaly

    As for TSD, signs begin at the age of 6 months with large head, seizures, cherry red spots, and doll-like facies. [ 26 ] In the brain, an amount of GM2 asialoganglioside that[ncbi.nlm.nih.gov]

  • Glycogen Storage Disease Type 6

    Other physical findings include truncal obesity, doll-like facies, short stature, and hypotrophic muscles.[doi.org]

Further symptoms