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347 Possible Causes for Coarse Facial Features, Dysmorphic Face

  • 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

    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] […] hypotrophy syndrome Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome Intellectual disability-developmental delay-contractures syndrome Intellectual[se-atlas.de] 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]

  • Mucopolysaccharidosis 6

    Presentation Patient with coarse facial features, cardiac murmure, gibbus and dental decay.[radiopaedia.org] The face is dysmorphic with coarse features. Bone dysplasia and facial dysmorphism may be seen at birth.[disorders.eyes.arizona.edu] 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]

  • Mucopolysaccharidosis 1

    Further common findings are coarse facial features, carpal tunnel syndrome, umbilical and inguinal hernia, and hepatomegaly.[symptoma.com] facial features Communicating hydrocephalus (fluid on the brain) Abnormally shaped teeth Life expectancy Life expectancy varies significantly for people with MPS I.[mps1disease.com] Patients may also have coarse facial features, although this is usually milder than that seen in MPSI or MPSII.[genedx.com]

  • Congenital Hypothyroidism

    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] Rubinstein-Taybi syndrome (RSTS), a genetic disorder characterized by growth retardation, mental deficiency, dysmorphic face, broad thumbs and large toes, generally affects[ncbi.nlm.nih.gov] Two infants who have coarse facial features and growth and developmental delay. Pediatrics in Review, 24 , 16–21.[link.springer.com]

  • Pallister-Killian Syndrome

    facial features, and pigmentary abnormalities.[mhmedical.com] Most common signs include facial dysmorphism, rhizomelic limb shortness, small hands and feet with nail hypoplasia.[orpha.net] 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]

  • Mucopolysaccharidosis 1H

    […] 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] facial features with low nasal bridge Signs and tests [ edit ] Genetic testing for the alpha-L-iduronidase (IDUA) gene Urine tests for extra mucopolysaccharides X-ray of[en.wikibooks.org] facial features with low nasal bridge Diagnosing Hurler Syndrome A diagnosis of Hurler syndrome can be achieved using the following exams and tests.[disabled-world.com]

  • Mucopolysaccharidosis 4

    Patients may also have coarse facial features, although this is usually milder than that seen in MPSI or MPSII.[genedx.com] Compared to other MPS types, the majority of patients with MPS IVA face a severe dysmorphic stature with predominantly skeletal problems [ 3 ].[journals.plos.org] Other common features of this condition include mildly "coarse" facial features, thin tooth enamel, multiple cavities, heart valve abnormalities, a mildly enlarged liver ([ldnz.org.nz]

  • Trichorhinophalangeal Syndrome

    Four familial cases of trichorhinophalangeal syndrome have been observed. These four and five other possible cases in the same family confirm the autosomal dominant inheritance and show a wide clinical expressivity. The radiological study of case 1 also confirms the existence of a characteristic generalized bone[…][ncbi.nlm.nih.gov]

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