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443 Possible Causes for Coarse Facial Features, Developmental Delay, Hoarseness

  • Mucopolysaccharidosis

    He had mild dysmorphic features with prominent speech developmental delays and, to a lesser extent, motor developmental delays.[ncbi.nlm.nih.gov] Vocal cords can also enlarge, resulting in a deep, hoarse voice.[ghr.nlm.nih.gov] facial features, developmental delay, and an elevated quantitative urine glycosaminoglycan (GAG) level.[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 2

    delay, and intellectual disability.[symptoma.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] The vocal cords also enlarge, which results in a deep, hoarse voice.[ghr.nlm.nih.gov]

  • Mucopolysaccharidosis 1

    Developmental delays, hearing loss and macroglossia contribute to severely reduced language acquisition.[symptoma.com] Vocal cords can also enlarge, resulting in a deep, hoarse voice.[ghr.nlm.nih.gov] In general, symptoms may include coarse facies, short stature, enlarged liver and spleen, hoarse voice, stiff joints, cardiac disease, but no neurological involvement.[neurology.testcatalog.org]

  • Congenital Hypothyroidism

    A 3-year-old girl had global developmental delay with dysmorphic facies. In addition, she was found to have congenital hypothyroidism.[ncbi.nlm.nih.gov] The child may also have: Poor feeding, choking episodes Constipation Dry, brittle hair Hoarse cry Jaundice (skin and whites of the eyes look yellow) Lack of muscle tone ([mountsinai.org] 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]

  • Costello Syndrome

    delays FCS SYNDROME Faciocutaneoskeletal Syndrome CSTLO COSTELLO SYNDROME Myopathy, Congenital, With Excess of Muscle Spindles COSTELLO SYNDROME; CSTLO edit English Costello[wikidata.org] We describe a 34-year-old woman with mental retardation, short stature, macrocephaly, a "coarse" face, hoarse voice, and redundant skin with deep palmar and plantar creases[ncbi.nlm.nih.gov] facial features and skeletal and cardiac abnormalities.[ncbi.nlm.nih.gov]

  • Mucolipidosis

    Both surviving children had severe global developmental delay at 2 months of age.[ncbi.nlm.nih.gov] Vocal cords can stiffen, resulting in a hoarse voice. The airway is narrow, which can contribute to prolonged or recurrent respiratory infections.[ldnz.org.nz] Voice is hoarse and breathing is noisy due to the progressive narrowing of airways, mucosal thickening and stiffening of all connective tissues which, along with cardiac involvement[orpha.net]

  • Mucopolysaccharidosis 1H

    Developmental: Developmental delay occurs in children with MPS1H which usually manifests by the age of 12 to 24 months.[symptoma.com] Vocal cords can also enlarge, resulting in a deep, hoarse voice.[ghr.nlm.nih.gov] 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]

  • Alpha-Mannosidosis

    These disorders, although rare, should be considered in the approach to a child with dysmorphism, developmental delay, skeletal deformities, and visceromegaly.[ncbi.nlm.nih.gov] Farber disease, disseminated lipogranulomatosis (ceramidase deficiency): Farber disease starts to manifest in infancy as a hoarse cry or swollen tender joints followed by[emedicine.medscape.com] Clinical symptoms include coarse facial features, skeletal involvement (dysostosis multiplex), hearing disabilities, mental retardation and hepatosplenomegaly.[ncbi.nlm.nih.gov]

  • Farber Disease

    Affected individuals have the three classic signs and usually do not have developmental delay.[ghr.nlm.nih.gov] […] presents classically during the infantile period with a characteristic triad of clinical manifestations: (a) painful joints, (b) subcutaneous nodules, and (c) progressive hoarseness[ncbi.nlm.nih.gov] The hallmarks of most phenotypes derive from multiple anatomical abnormalities including: facial dysmorphism with coarse face, macrocephaly, thick lips, hypertrophic gums[err.ersjournals.com]

  • Mucopolysaccharidosis 1 H-S

    Other physical findings included progressive flexion contractures and mild developmental delay.[researchers.mq.edu.au] Vocal cords can also enlarge, resulting in a deep, hoarse voice.[icdlist.com] facial features, hepatosplenomegaly, multiple radiographic evidence of dysostosis multiplex, manifestations of mild valvular heart disease as per echocardiography, and abnormally[scopemed.org]

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