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

  • Fucosidosis

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

  • Pallister-Killian Syndrome

    facial features, and pigmentary abnormalities.[] 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[] […] 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[]

  • Congenital Hypothyroidism

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

  • Fabry Disease

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

  • Mucopolysaccharidosis

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

  • Simpson Dysmorphia Syndrome

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

  • Mucopolysaccharidosis 2

    Other symptoms may include: carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness and a large head (macrocephaly).[] 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[] Figure 1: shows Coarse facial features with depressed nasal bridge, a short neck, long philtrum.[]

  • 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[] 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[] 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[]

  • 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[] facial features Coarse facial appearance 0000280 Craniofacial hyperostosis Excessive bone growth of the skull and face 0004493 Delayed skeletal maturation Delayed bone maturation[] Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges.[]

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