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407 Possible Causes for Coarse Facial Features, Hirsutism, Thick Lips

  • 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] These symptoms may include kyphosis (curvature of the spine causing a “lump on the back”), joint stiffness, coarse facial features (flattened nose bridge, thick lips and an[luriechildrens.org]

  • 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] Signs and symptoms of MPS 2A include: Macrocephaly Coarse facies Large rounded cheeks Thick lips Hypertrophic adenoids and tonsils Macroglossia Hoarse voice Short neck Retinal[symptoma.com] 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] The facial aspect is characteristic and includes a widened and thickened nose, prominent cheekbones, forehead bulges, thick lips and marked facial lines.[orpha.net]

  • Mucopolysaccharidosis 1

    Further common findings are coarse facial features, carpal tunnel syndrome, umbilical and inguinal hernia, and hepatomegaly.[symptoma.com] Other manifestations include corneal clouding, organomegaly, heart disease, short stature, hernias, facial dysmorphism and hirsutism.[orpha.net] The early signs usually are coarsening of facial features with enlarged mouth, thick lips, and eye problems that progressively become worse.[medicinenet.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] […] eyebrow Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ] 0000574 Thick vermilion border Full lips Increased volume of lip Plump lips[rarediseases.info.nih.gov]

  • 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] The early signs usually are coarsening of facial features with enlarged mouth, thick lips, and eye problems that progressively become worse.[medicinenet.com]

  • Aspartylglucosaminuria

    facial features, and skeletal abnormalities become evident by adolescence.[medical-dictionary.thefreedictionary.com] lips and a square shape of face, was found to be present long before the coarsening begins.[ncbi.nlm.nih.gov] Clinical features include mild to severe mental retardation manifesting from the age of two, coarse facial features and mild connective tissue abnormalities.[uniprot.org]

  • Incontinentia Pigmenti Achromians

    Other associated disorders occur inconsistently and include macrocephaly, microcephaly, h6mihypertrophy, kyphoscoliosis, coarse facial features, genital anomalies, inguinal[cambridge.org] Other symptoms develop as the child grows, and may include: Crossed eyes (strabismus) Hearing problems Increased body hair ( hirsutism ) Scoliosis Seizures Streaked, whorled[nlm.nih.gov] Other of her symptoms--thick lips and myopia--have been reported earlier.[ncbi.nlm.nih.gov]

  • Donohue Syndrome

    Fig. 1 Hirsuitism, marked emaciation and coarse facial features in Leprechaunism.[indianpediatrics.net] […] 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] The patient showed typical "elfin-like" face with wide nostrils and thick lips, large and low-set ears, and dysplastic nails.[ncbi.nlm.nih.gov]

  • 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] 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] A large mouth with thick lips may also be present. There is slight protrusion of the eyes.[symptoma.com]

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