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13 Possible Causes for Alkaline Phosphatase Increased, Round Face in Infancy, Short Stature

  • Glycogen Storage Disease due to GLUT2 Deficiency

    stature) persist into adulthood.[ncbi.nlm.nih.gov] Infants have a round “doll” face.[clinicaladvisor.com] phosphatase Greatly elevated alkaline phosphatase High serum alkaline phosphatase Increased alkaline phosphatase Increased serum alkaline phosphatase Last updated: 2/27/2017[rarediseases.info.nih.gov]

  • Pseudopseudohypoparathyroidism

    She also exhibited a short stature, round face and brachydactyly with shortening of the metacarpal and metatarsal bones.[doi.org] A 62 year old man with a height of 171.5 cm, a round face, a short neck, central obesity and brachydactyly had normal ranges of serum calcium, phosphorus and PTH and a normal[e-enm.org] Phosphorus elevated (parathyroid reaction): hyperphosphatemia spasmophilia; 52 Tetania: paraclinic investigations 1.Biochemical tests - Increased alkaline phosphatase (in[slideplayer.com]

  • Glycogen Storage Disease Type 1

    Short stature was demonstrated in 3 of 4 patients with GSD1b and GH deficiency.[ncbi.nlm.nih.gov] Infants have a round “doll” face.[clinicaladvisor.com] Gout, anemia, osteopenia and/or fractures, increased alkaline phosphatase and gamma-glutamyltransferase are common.[wjgnet.com]

  • Glycogen Storage Disease Type 9

    A 5-year-old boy with short stature, hepatomegaly and motor weakness due to hepatic phosphorylase kinase deficiency is described.[ncbi.nlm.nih.gov] Infants have a round “doll” face.[clinicaladvisor.com] Gout, anemia, osteopenia and/or fractures, increased alkaline phosphatase and gamma-glutamyltransferase are common.[wjgnet.com]

  • Cataract - Ataxia - Short Stature - Mental Retardation (CASM)

    Cataracts, ataxia, short stature, and mental retardation in a Chinese family mapped to Xpter-q13.1 . J Hum Genet. 2006;51(8):695-700.[disorders.eyes.arizona.edu] Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face.[tsbvi.edu] Characteristic biochemical features include hypocalcaemia, hyperphosphataemia, normal alkaline phosphatase (may be relatively low) and reduced urinary calcium excretion.[gpnotebook.co.uk]

  • Autosomal Recessive Distal Osteolysis Syndrome

    In adulthood: the problem is mostly functional consisting of a persistent short stature [8].[jocr.co.in] […] disability, severe Feeding difficulties in infancy Highly arched eyebrow Apnea Failure to thrive Cataract Short stature Congenital cataract Lumbar hyperlordosis Autosomal[mendelian.co] Hepatic enzymes demonstrated a cholestasis pattern with significant increase of gamma glutamyl transferase (300 U/l) and alkaline phosphatase (1735 U/l), while lipoprotein[academic.oup.com]

  • Kondoh Syndrome

    stature 33 HP:0004322 7 long philtrum 33 HP:0000343 8 intrauterine growth retardation 33 HP:0001511 9 thin upper lip vermilion 33 HP:0000219 10 preaxial hand polydactyly[malacards.org] In infancy, the face is round with disproportionate prominence of forehead and become longer in adolescence, with prominence of the pointed chin.[ojrd.biomedcentral.com] ) Increased AST and ALT Increased alkaline phosphatase Hyperuricemia Hyperphosphatemia Hyperkalemia Myoglobinemia Leukocytosis (70-98% of cases) Thrombocytosis Proteinuria[emedicine.medscape.com]

  • Lethal Occipital Encephalocele - Skeletal Dysplasia Syndrome

    GREENBERG DYSPLASIA; GRBGD Is also known as hydrops-ectopic calcification-moth-eaten skeletal dysplasia, hem skeletal dysplasia, moth-eaten skeletal dysplasia, chondrodystrophy[mendelian.co] phosphatase -decreased mineralization of bones -servere micromelia -marked demineralization of cranium resulting in increased echogenicity of flax cerbi 2 Types Type 1-autosomal[brainscape.com] dysplasia-epilepsy-short stature syndrome Slender bone dysplasia Smith-Fineman-Myers syndrome Smith-Lemli-Opitz syndrome Smith-Magenis syndrome Smith-McCort dysplasia Solitary[se-atlas.de]

  • Autosomal Recessive Mental Retardation Type 3

    Stature Syndrome, Brussels Type Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia[rgd.mcw.edu] Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face.[tsbvi.edu] […] serum alkaline phosphatase.[malacards.org]

  • Epicanthal Folds

    MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME; MCSKS Is also known as microphthalmia or coloboma with or without rhizomelic skeletal dysplasia, microphthalmia, syndromic[mendelian.co] Creatine kinase and serum alkaline phosphatase may be increased and muscle histology shows small, atrophic fibers with increased fibrosis and considerable variations in fiber[disorders.eyes.arizona.edu] Children with Down syndrome have flat face, short neck, abnormally shaped ears and short stature.[ic.steadyhealth.com]

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