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600 Possible Causes for Coarse Facial Features, Pediatric Disorder

  • Mucopolysaccharidosis

    facial features, developmental delay, and an elevated quantitative urine glycosaminoglycan (GAG) level.[ncbi.nlm.nih.gov] The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr. 2004 May;144(5 Suppl):S27-34. Review.[ghr.nlm.nih.gov] Adv Pediatr 33:269–302, 1986. PubMed Google Scholar 17. Muenzer J: The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations.[link.springer.com]

  • Fabry Disease

    Often patients have slight builds with characteristic coarse facial features and delayed puberty.[patient.info] , and the Society for Pediatric Research.[books.google.de] The patient is 10 years old and presents severe mental handicap, coarse face, hepatosplenomeagly, dysostosis multiplex, joint contractures, obstructive airway disease, mitral[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 2

    Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[secure.ssa.gov] Abstract Mucopolysaccharidosis type II (MPSII) is an inherited disorder due to a deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS).[ncbi.nlm.nih.gov] There are some obvious physical signs of Hunter syndrome, such as coarse facial features and an enlarged liver and spleen, as well as some less noticeable symptoms. 2 Symptoms[rare2aware.com]

  • Mucopolysaccharidosis 1

    Further common findings are coarse facial features, carpal tunnel syndrome, umbilical and inguinal hernia, and hepatomegaly.[symptoma.com] ., The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr, 2004. 144(5 Suppl): p. S27-34. 2). Beesley, C.E., D.[egl-eurofins.com] The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr. 2004 May;144(5 Suppl):S27-34. Review.[ghr.nlm.nih.gov]

  • Fucosidosis

    Fucosidosis is a rare autosomal recessive lysosomal storage disease with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features[ncbi.nlm.nih.gov] Center for Human Genetics and is Director of the Rare Brain Disorders Program (Clinic and Laboratory).[books.google.de] facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.[orpha.net]

  • Simpson Dysmorphia Syndrome

    facial features, widely spaced eyes, a short nose with anteverted nares, gingival overgrowth, a wide mouth, short limbs with short distal phalanges, and a small penis.[zora.uzh.ch] You’ll benefit from unique, global perspectives on adult and pediatric endocrinology prepared by an international team of renowned authorities.[books.google.com] The main features pointing towards the diagnosis were macrosomia, coarse facial features and macroglossia with a midline groove in the tongue.[samj.org.za]

  • Mucopolysaccharidosis 1H

    […] hairy skin all over the body, a tuft of hair in the parietal region, coarse facial features and a prominent forehead with a large tongue, hepatosplenomegaly and skeletal[dx.doi.org] The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr. 2004 May;144(5 Suppl):S27-34. Review.[ghr.nlm.nih.gov] J Neurosurg Pediatr. 2015. 15: 96-100 12. Johnson BA, Dajnoki A, Bodamer OA. Diagnosing lysosomal storage disorders: Mucopolysaccharidosis type i.[surgicalneurologyint.com]

  • Winchester Syndrome

    facial features, though there is variability within the clinical features.[ncbi.nlm.nih.gov] Definition / general Rare hereditary pediatric disorder with extracellular hyaline material deposition in skin, soft tissue and bone Terminology Molluscum fibrosum in children[pathologyoutlines.com] Safety and tolerability of aripiprazole for irritability in pediatric patients with autistic disorder: A 52-week, open-label, multicenter study.[winchesterhospital.org]

  • Mucopolysaccharidosis 7

    Features of MPS VII are large head coarse facial features large tongue enlarged liver and spleen heart valve abnormalites umbilical hernia may have narrow airways cloudy cornea[ldnz.org.nz] The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr. 2004 May;144(5 Suppl):S27-34. Review.[ghr.nlm.nih.gov] […] developmental delay, autistic features, sleep disturbances and mildly coarse facial features.[invitae.com]

  • Juvenile Myxedema

    Frieden, two of the most important names in the fields of dermatology and pediatrics.[books.google.de] Pediatr Ann 1992; 21: 29-35. 2. Foley TP Jr. Disorders of the thyroid in children. ln: (ed) Pediatrics Endocrinology, 1st edn. Philadelphia, W.B.[indianpediatrics.net] J Pediatr 69:709–718 Google Scholar 25. Woolner LB, McConahey WM, Meahrs OH (1959) Struma lymphomatosa (Hashimoto's thyroiditis) and related thyroidal disorders.[link.springer.com]

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