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368 Possible Causes for Coarse Facial Features, Hirsutism, 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] Other manifestations include corneal clouding, organomegaly, heart disease, short stature, hernias, facial dysmorphism and hirsutism.[orpha.net]

  • 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] Additional dermatological findings include hypertrichosis, thickened skin, and multiple Mongolian spots. Hypertrichosis may result in synophrys.[emedicine.medscape.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] Other manifestations include corneal clouding, organomegaly, heart disease, short stature, hernias, facial dysmorphism and hirsutism.[orpha.net]

  • 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] Affected individuals exhibit severe mental retardation , clouding of the corners of the eyes, deafness , hirsutism (hairiness), enlarged liver and spleen , dwarfism with hunched[britannica.com]

  • 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] Patient had virilization of the external genitalia with hirsutism and masculine voice. Patient had ambiguous genitalia.[joacp.org]

  • Aspartylglucosaminuria

    facial features, and skeletal abnormalities become evident by adolescence.[medical-dictionary.thefreedictionary.com] Disorders E-2903 168 Measurement of Health Outcomes in Pediatric Neurologic Disorders E-2910 169 The Influence of Computer Resources on Child Neurology E-2918 170 Education[books.google.com] Clinical features include mild to severe mental retardation manifesting from the age of two, coarse facial features and mild connective tissue abnormalities.[uniprot.org]

  • Mucopolysaccharidosis 3

    Other symptoms include: Behavioral problems Coarse facial features Diarrhea Full lips Heavy eyebrows that meet in the middle of the face above the nose Sleep difficulties[mpssociety.org] , 2004 , vol. 71 (pg. 29 - 32 ) 48 Enzymatic diagnosis of the genetic mucopolysaccharide storage disorders , Methods Enzymol , 1978 , vol. 50 (pg. 439 - 56 ) 49 Prenatal[rheumatology.oxfordjournals.org] The stiff joints, hirsuteness and coarse hair typical of other mucopolysaccharidoses are usually not present until late in the disease.[checkorphan.org]

  • Mucopolysaccharidosis 1S

    Individuals with MPS disorders share many similar symptoms such as multiple organ involvement, distinctive “coarsefacial features, and abnormalities of the skeleton especially[rarediseases.org] Attention deficit/hyperactivity disorder Autism spectrum disorder Developmental disabilities Mucopolysaccharidosis type III Speech/language disorders Pediatrics, Perinatology[scholars.northwestern.edu] Somatic manifestations such as hepatomegaly, dysostosis multiplex, coarse facies and hypertrichosis are relatively mild compared to the other mucopolysaccharidoses.[invitae.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] hypertrichosis / Increased body hair - Irregular / in bands / reticular skin hyperpigmentation - Long / large / bulbous nose - Thick lips - Thick skin / pachydermia / orange[csbg.cnb.csic.es]

  • Donohue Syndrome

    Fig. 1 Hirsuitism, marked emaciation and coarse facial features in Leprechaunism.[indianpediatrics.net] J Pediatr 32: 739, 1948 CrossRef Google Scholar 2. Donohue WL, Uchida I: Leprechaunism, euphemism for a rare familial disorder. J Pediatr 45: 505, 1954.[link.springer.com] […] a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe growth retardation, hypertrichosis[ncbi.nlm.nih.gov]

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