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366 Possible Causes for Coarse Facial Features, Hirsutism, Recurrent Respiratory Infections

  • Mucopolysaccharidosis

    facial features, developmental delay, and an elevated quantitative urine glycosaminoglycan (GAG) level.[ncbi.nlm.nih.gov] The early clinical characteristics were developmental delay, joint stiffness, coarse facies, recurrent respiratory tract infections, abdominal distention and hernia.[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]

  • 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] Both the children had a history of recurrent respiratory infections and intermittent joint pain since early childhood.[mjdrdypu.org] Factors such as recurrent respiratory infections, enlarged tongue and hypertrophic tonsils contributed to this (Table 1).[actamedicaphilippina.com.ph]

  • 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] Recurrent respiratory infections were noted in 11 of the 27 patients (41%) and recurrent otitis media was seen in 19 (70%), all with documented conductive hearing loss and[jamanetwork.com] [rarediseases.org] Skin Hirsutism Patients with MPS III are mentally retarded with severe hirsutism and synophrys.[symptoma.com]

  • Chronic Alcoholism

    Porphyria cutanea tarda Porphyria cutanea tarda (PCT) results in photosensitivity, skin fragility, blistering, erosions, crusts, milia, scleroderma and increased hair growth ( hypertrichosis[dermnetnz.org]

  • Mucopolysaccharidosis 1

    Further common findings are coarse facial features, carpal tunnel syndrome, umbilical and inguinal hernia, and hepatomegaly.[symptoma.com] Recurrent respiratory infections were noted in 11 of the 27 patients (41%) and recurrent otitis media was seen in 19 (70%), all with documented conductive hearing loss and[jamanetwork.com] Other manifestations include corneal clouding, organomegaly, heart disease, short stature, hernias, facial dysmorphism and hirsutism.[orpha.net]

  • Mucopolysaccharidosis 1H

    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] Most patients have recurrent ear and upper respiratory tract infections, persistent nasal discharge and noisy breathing.[themedicalbiochemistrypage.org] 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]

  • Hypertrichotic Osteochondrodysplasia

    […] of head or neck Anteverted nares Coarse facial features Curly eyelashes Epicanthus Large sella turcica Long philtrum Low anterior hairline Low posterior hairline Macrocephaly[familydiagnosis.com] […] syndrome Differential Diagnoses Acquired generalized hypertrichosis Congenital hypertrichosis universalis Dermatologic Manifestations of Hirsutism Dermatologic Manifestations[emedicine.medscape.com] respiratory infections Abnormality of the pinna Clinodactyly Proteinuria Skeletal dysplasia Thin upper lip vermilion Micromelia Narrow chest Arrhythmia Finger syndactyly[mendelian.co]

  • 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] respiratory infections, cardiac disease [ 32 , 33 ], hepatomegaly and splenomegaly, umbilical and inguinal hernias, chronic diarrhoea, CTS [ 34 ], communicating hydrocephalus[rheumatology.oxfordjournals.org] Patient had virilization of the external genitalia with hirsutism and masculine voice. Patient had ambiguous genitalia.[joacp.org]

  • Mucopolysaccharidosis 1 H-S

    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] Cardiac valve incompetence is common, as are recurrent respiratory infections.[unboundmedicine.com]

  • Aspartylglucosaminuria

    facial features, and skeletal abnormalities become evident by adolescence.[medical-dictionary.thefreedictionary.com] respiratory infections, delayed speech and cognitive development, gingival hyperplasia, and facial coarsening is reported as well.[symptoma.com] Clincal signs and symptoms include hepatomegaly, splenomegaly, hearing loss, mental retardation, skeletal abnormalities, and recurrent respiratory infections.[icd10data.com]

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