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735 Possible Causes for Coarse Facial Features

  • 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] This leads to coarse facial features, soft tissue swelling (including the tongue), enlargement of the hands and feet, respiratory problems, hypertension, diabetes mellitus[ncbi.nlm.nih.gov] Children with gigantism have few soft tissue effects (eg, peripheral edema, coarse facial features), because of their rapid linear growth.[emedicine.medscape.com]

  • Fucosidosis

    Its clinical phenotypes include progressive neurological and mental deterioration, coarse facial features, growth retardation, visceromegaly, angiokeratomas, and seizures.[ncbi.nlm.nih.gov] At age 12, he could not walk without help; he was admitted to the hospital with intellectual disability, short stature and coarse facial features.[ncbi.nlm.nih.gov] Clinical features include angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, hepatomegaly, and dysostosis multiplex.[omicsonline.org]

  • Pallister-Killian Syndrome

    facial features, and pigmentary abnormalities.[mhmedical.com] facial features as child gets older, broad nasal bridge, streaks or patches of lighter or darker skin, sparse hair or bald patches, high arched or cleft palate, shorter arms[dailymail.co.uk] […] hair density on the head, mental retardation, coarse facial appearance, and unusual pigmentation of the skin Treatment of the condition is based on the severity and type[dovemed.com]

  • Congenital Hypothyroidism

    On physical exam you note lethargy, hypotonia, a large, protruding tongue and coarse facial features.[step2.medbullets.com] The symptoms of congenital hypothyroidism may include the following: Puffy face Coarse facial features Dull look Thick protruding tongue Poor feeding Choking episodes Constipation[health.cvs.com] Two infants who have coarse facial features and growth and developmental delay. Pediatrics in Review, 24 , 16–21.[link.springer.com]

  • Fabry Disease

    Often patients have slight builds with characteristic coarse facial features and delayed puberty.[patient.info]

  • Mucopolysaccharidosis

    facial features, developmental delay, and an elevated quantitative urine glycosaminoglycan (GAG) level.[ncbi.nlm.nih.gov] The patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with[ncbi.nlm.nih.gov] He did not develop coarse facial features, joint disease, or organomegaly, and his cardiac function remained normal.[ncbi.nlm.nih.gov]

  • Simpson Dysmorphia Syndrome

    It is characterized by pre-and postnatal overgrowth, coarse facial features, macrocephaly, macroglossia, congenital heart defects, and intellectual disability.[unimd.org] 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] The main features pointing towards the diagnosis were macrosomia, coarse facial features and macroglossia with a midline groove in the tongue.[samj.org.za]

  • 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] There are some obvious physical signs of Hunter syndrome, such as coarse facial features and an enlarged liver and spleen, as well as some less noticeable symptoms. 2 Symptoms[rare2aware.com] Figure 1: shows Coarse facial features with depressed nasal bridge, a short neck, long philtrum.[omicsonline.org]

  • Autosomal Recessive Spastic Paraplegia 52

    […] hypotonia Short philtrum [ EoM Image ] Further information: Morphology of elements Coarse facial features Eyes Hypertelorism [ EoM Image ] Further information: Morphology[mnglabs.com] Coarse facial features MedGen UID: 335284 • Concept ID: C1845847 • Finding Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded[ncbi.nlm.nih.gov] Microcephaly [ EoM Image ] Further information: Morphology of elements Mouth High-arched palate Full lips Wide mouth [ EoM Image ] Further information: Morphology of elements Face Facial[mnglabs.com]

  • Coffin-Lowry Syndrome

    Cof·fin-Low·ry syn·drome ( kof'ĭn low'rē ), [MIM*303600] characterized by coarse facial features with bulbous nose, large ears, and thick lips; short stature; tapered fingers[medical-dictionary.thefreedictionary.com] facial features Coarse facial appearance 0000280 Craniofacial hyperostosis Excessive bone growth of the skull and face 0004493 Delayed skeletal maturation Delayed bone maturation[rarediseases.info.nih.gov] Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges.[uniprot.org]

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