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29 Possible Causes for Coarse Facial Features, Hirsutism, Thickened Aortic Valve

  • Mucopolysaccharidosis

    Autopsy showed thickened and stenotic aortic valve leaflets as well as marked concentric intimal thickening of the aorta and muscular arteries.[ncbi.nlm.nih.gov] facial features, developmental delay, and an elevated quantitative urine glycosaminoglycan (GAG) level.[ncbi.nlm.nih.gov] Other manifestations include corneal clouding, organomegaly, heart disease, short stature, hernias, facial dysmorphism and hirsutism.[orpha.net]

  • Mucopolysaccharidosis 1H

    Cardiopulmonary: Cardiopulmonary manifestations include aortic valve dysfunction and frequent upper and lower respiratory tract infections.[symptoma.com] […] 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] 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 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] Other symptoms may include corneal clouding, organomegaly, heart disease, short stature, hernias, facial dysmorphism and hirsutism.[cags.org.ae]

  • Mucopolysaccharidosis 2

    Also, a mildly thickened aortic and tricuspid valve with mild tricuspid and moderate aortic regurgitation were seen. No pericardial effusion or thrombi were found.[karger.com] Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[secure.ssa.gov] Additional dermatological findings include hypertrichosis, thickened skin, and multiple Mongolian spots. Hypertrichosis may result in synophrys.[emedicine.medscape.com]

  • Acromegaly

    A 30-year-old Filipino man presented with a 11-year history of coarse facial features and progressive enlargement of hands and feet.[ncbi.nlm.nih.gov] […] growths) Sleep apnea Widened fingers or toes, with swelling, redness, and pain Other symptoms that may occur with this disease: Colon polyps Excess hair growth in females ( hirsutism[nlm.nih.gov] […] of cardiac walls, diastolic dysfunction, limited systolic function, and heart failure with signs of dilative cardiomyopathy. [8] Mitral and aortic valve dysfunction. [8][physio-pedia.com]

  • Mucopolysaccharidosis 6

    Cardiac involvement includes aortic and mitral valve dysfunction. Skeletal changes are typified by dysostosis multiplex.[emedicine.medscape.com] Presentation Patient with coarse facial features, cardiac murmure, gibbus and dental decay.[radiopaedia.org] [rarediseases.org] Skin Hirsutism Patients with MPS III are mentally retarded with severe hirsutism and synophrys.[symptoma.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] Hirsutism of the lower back (B) and forearms(C) Figure 3 All images are from a woman age 40 years.[ncbi.nlm.nih.gov] […] regurgitation Congenital anomalies Patent ductus arteriosus Bicuspid and/or stenotic aortic valve Skeletal abnormalities Thickened calvarium Narrow shoulders and thorax Broad[doi.org]

  • Simpson Dysmorphia Syndrome

    Valve Leaflets Into The Septal Defects Resulting In Aortic Regurgitation And/Or Closure Of The Ventricular Septal Defect Neck Short And Broad Neck Muscles Hypotonia Nervous[neo-genetics.com] 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] Cardiofaciocutaneous syndrome Cataract-ataxia-deafness syndrome Cataract-congenital heart disease-neural tube defect syndrome Cataract-deafness-hypogonadism syndrome Cataract-hypertrichosis-intellectual[se-atlas.de]

  • Gigantism - Acromegaly

    Physical examination showed coarse facial features, spade-like hands and feet, pitting pedal edema, galactorrhoea, and features of congestive cardiac failure.[smartypance.com] […] coarsened facial features; widely spaced teeth; excessive snoring; excessive sweating; impotence in men; cessation of menstrual periods (amenorrhea) and excess facial hair (hirsutism[healthcommunities.com] […] of cardiac walls, diastolic dysfunction, limited systolic function, and heart failure with signs of dilative cardiomyopathy. [8] Mitral and aortic valve dysfunction. [8][physio-pedia.com]

  • Mucopolysaccharidosis 4A

    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] Facial coarsening, macrocephaly, confluence of eyebrows, hirsutism, and hepatosplenomegaly were present.[journals.lww.com] Transthoracic echocardiography showed mildly thickened aortic and mitral valves and a grade 2 left ventricle with a well-delineated, thin-walled apical aneurysm measuring[circ.ahajournals.org]

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