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38 Possible Causes for Pediatric Disorder, Round Face in Infancy

  • Autistic Disorder

    Her clinical features included hypotonia and feeding difficulties during infancy, coarse face with notably prominent forehead, prominent eyebrows, broad flat nasal bridge[ncbi.nlm.nih.gov] In two, randomized, double-blind, placebo-controlled studies in pediatric patients aged 6-17 years with irritability associated with autistic disorder, 8 weeks of treatment[ncbi.nlm.nih.gov] OBJECTIVE: Evaluate the long-term safety and tolerability of aripiprazole in the treatment of irritability in pediatric subjects (6-17 years) with autistic disorder.[ncbi.nlm.nih.gov]

  • Pseudopseudohypoparathyroidism

    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] Abstract Patients with Albright hereditary osteodystrophy (AHO) phenotype are usually seen in pediatric endocrinology policlinics when they are evaluated for short stature[degruyter.com] MC4R mutations cause morbid obesity starting in infancy, as well as an elevated leptin level.[e-enm.org]

  • Glycogen Storage Disease Type 1

    Infants have a round “doll” face.[clinicaladvisor.com] Nelson Textbook of Pediatrics. 16th ed. Philadelphia: Saunders; 2000. p. 405. 6. Bickel H, Manz F.[journalofpediatriccriticalcare.com] Rev Endocr Metab Disord. 2003;4:95-102. Shin YS. Glycogen storage disease: Clinical, biochemical, and molecular heterogeneity. Semin Pediatr Neurol. 2006;13:115-20.[revistabiomedica.org]

  • Glycogen Storage Disease Type 6

    Infants have a round “doll” face.[clinicaladvisor.com] Inborn Errors of Metabolism with Hypoglycemia: Glycogen Storage Diseases and Inherited Disorders of Gluconeogenesis. Pediatr Clin North Am. 2018 Apr. 65 (2):247-265.[emedicine.medscape.com] Gonzales, a pediatric nutrition specialist with an interest in metabolic disorders, is a key member of the Glycogen Storage Disease Program team.[consultqd.clevelandclinic.org]

  • Glycogen Storage Disease Type 3

    Infants have a round “doll” face.[clinicaladvisor.com] J Inherit Metab Dis 38:545–550 CrossRef PubMed Google Scholar Elpeleg ON (1999) The molecular background of glycogen metabolism disorders.[link.springer.com] Rev Endocr Metab Disord. 2003;4:95-102. Shin YS. Glycogen storage disease: Clinical, biochemical, and molecular heterogeneity. Semin Pediatr Neurol. 2006;13:115-20.[revistabiomedica.org]

  • Phosphorylase Kinase Deficiency

    Infants have a round “doll” face.[clinicaladvisor.com] Completely updated, the new edition of this easy-to-reference text examines the physiological, biochemical, and genetic aspects of pediatric endocrine disorders.[books.google.de] Explore the impact of today’s advances and challenges , including explosive growth in molecular biology, sophisticated imaging techniques, and an increase in both pediatric[books.google.de]

  • Trisomy X Syndrome

    Affected individuals also have distinctive facial features, including widely set eyes, low-set ears, a small jaw and a rounded face.[igeneprenataltest.com] P. and Marion, R. (2010) Chromosomal Disorders. Nelson's Essentials of Pediatrics (6th Edition). In: Marcdante, J; Kliegman, R.; Jenson, H.; Behrman, R. eds.[verywell.com] It causes intellectual disability and delayed development, small head size, low birth weight, and weak muscle tone in infancy.[igeneprenataltest.com]

  • Weaver Syndrome

    […] recognized clinical growth disorder.[link.springer.com] Abstract Weaver syndrome (WS) is a rare congenital overgrowth disorder caused by heterozygous mutations in EZH2 (enhancer of zeste homolog 2) or EED (embryonic ectoderm development[ncbi.nlm.nih.gov] Pediatr Radiol 5:53–57 Google Scholar Marshall RE, Graham CB, Scott CR, Smith DW (1971) Syndrome of accelerated skeletal maturation and relative failure of thrive: A newly[link.springer.com]

  • XXXXY Syndrome

    face in infancy,(Look very much like a cherub) coarse features in older age, hypertelorism, epicanthal folds, prognathism, gynecomastia (rare), congenital heart defects ([web.archive.org] disorders, resulting in a rise in the diagnosis and early referral to the pediatric endocrinologist.[hindawi.com] Other features include severely impaired speech, behavioral problems, short or broad neck, low birth weight, hyperextensible joints, short stature, round face in infancy,[web.archive.org]

  • Crisponi Syndrome

    face in infancy Anteverted nares (upturned nose) Low-set ears Puckered chin Short neck Pursed lips (see photos); may resolve with time Blepharospasm (sustained, forced closing[forgottendiseases.org] Antley-Bixler syndrome: a disorder characterized by congenital synostosis of the elbow joint and the cranial suture. J Pediatr Orthop. 1996;16:243-246. LeHeup BP, et al.[rarediseases.org] […] in a minority of patients) Patients with Crisponi syndrome also have a characteristic facial appearance (see photos at bottom of page), as follows: Facial characteristics Rounded[forgottendiseases.org]

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