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34 Possible Causes for Coarse Facial Features, Hirsutism, Mucopolysaccharidosis 1H

  • Mucopolysaccharidosis

    facial features, developmental delay, and an elevated quantitative urine glycosaminoglycan (GAG) level.[ncbi.nlm.nih.gov] […] large tongue, prominent forehead, joint stiffness, and short stature; upper airway obstruction, recurrent ear infections, noisy breathing, and persistent nasal discharge; hirsutism[emedicine.medscape.com] The patient presented with mild coarse facial features, short stature, mild dyspnea, sternal protrusion, mild lumbar hyperlordosis, and waddling gait owing to bilateral femoral[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 6

    Physical Facial features associated with MPS VI include the following: Coarse facial features (Compare the facial features with those of other family members to best appreciate[emedicine.medscape.com] [rarediseases.org] Skin Hirsutism Patients with MPS III are mentally retarded with severe hirsutism and synophrys.[symptoma.com] Presentation Patient with coarse facial features, cardiac murmure, gibbus and dental decay.[radiopaedia.org]

  • Mucopolysaccharidosis 7

    1H/S (IDUA) * Sequencing (complete) EDTA blood / DNA 2-3 weeks Mucopolysaccharidosis 2 (IDS) * Sequencing (complete) & MLPA EDTA blood 2-3 weeks Mucopolysaccharidosis 3A[diagenom.de] 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] Patient had virilization of the external genitalia with hirsutism and masculine voice. Patient had ambiguous genitalia.[joacp.org]

  • Mucopolysaccharidosis 1H

    Mucopolysaccharidosis type 1H (MPS1H), also known as Hurler syndrome, Hurler's disease or gargoylism, is the most severe form of mucopolysaccharidosis type 1.[symptoma.com] Note his coarse facial features, crouched stance, thickened digits, and protuberant abdomen. Transgenic mice with a targeted disruption of a -L-iduronidase .[medgen.genetics.utah.edu] 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 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] The stiff joints, hirsuteness and coarse hair typical of other mucopolysaccharidoses are usually not present until late in the disease.[checkorphan.org] Other characteristics include coarse facial features, thick lips, synophrys, and stiff joints. Chronic diarrhea, enlarged liver and spleen are also common.[en.wikipedia.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] […] short neck, kyphosis of lumbar spine, pigeon chest, widening of wrist, bowing of legs, doubling of malleoli, abdominal distension, umbilical hernia, noisy breathing, and hirsutism[jcor.in] Somatic manifestations such as hepatomegaly, dysostosis multiplex, coarse facies and hypertrichosis are relatively mild compared to the other mucopolysaccharidoses.[invitae.com]

  • Mucopolysaccharidosis 1 H-S

    A type of mucopolysaccharidosis (MPS 1H/S) characterized by symptoms that are intermediate in severity between those of Hurler syndrome and Scheie syndrome.[medical-dictionary.thefreedictionary.com] facial features, hepatosplenomegaly, multiple radiographic evidence of dysostosis multiplex, manifestations of mild valvular heart disease as per echocardiography, and abnormally[scopemed.org] Other manifestations may include organomegaly, hernias and hirsutism.[orpha.net]

  • Marshall-Smith Syndrome

    Lysosomal storage diseases with skeletal involvement (dysostosis multiplex group) Mucopolysaccharidosis type 1H/1SAR6070144p16.3 IDA Alpha-1-Iduronidase Mucopolysaccharidosis[onlinelibrary.wiley.com] Many cases, however, have a wider clinical spectrum. general fetal macrosomia failure to thrive skeletal accelerated skeletal maturation craniofacial dysmorphic facial features[radiopaedia.org] Individuals may also have heart defects, an increased amount of body hair (hirsutism), and flat feet (pes planus). 0005616 Anteverted nares Nasal tip, upturned Upturned nasal[rarediseases.info.nih.gov]

  • Mucopolysaccharidosis 4A

    1H/S (IDUA) * Sequencing (complete) EDTA blood / DNA 2-3 weeks Mucopolysaccharidosis 2 (IDS) * Sequencing (complete) & MLPA EDTA blood 2-3 weeks Mucopolysaccharidosis 3A[diagenom.de] facial features Coarse facial appearance 0000280 Constricted iliac wings 0003277 Coxa valga 0002673 Disproportionate short-trunk short stature Disproportionate short-trunked[rarediseases.info.nih.gov] Patient had virilization of the external genitalia with hirsutism and masculine voice. Patient had ambiguous genitalia.[joacp.org]

  • Hypomandibular Faciocranial Dysostosis

    HURLER SYNDROME Is also known as mucopolysaccharidosis type ih;mps1-h;hurler disease; mps1h; mpsih; mucopolysaccharidosis type 1h; mucopolysaccharidosis type ih Related symptoms[mendelian.co] Hirsutism congenital gingival hyperplasia[?] Hirsutism skeletal dysplasia mental retardation[?] His bundle tachycardia[?] Histidinemia[?][encyclopedia.kids.net.au] Vasudevan Pradeep C - - 2004 We report on a child with Fryns syndrome who showed a characteristic coarse hirsute facial appearance, bilateral cleft lip and palate, cardiac[biomedsearch.com]

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