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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.[] Vocal cords can also enlarge, resulting in a deep, hoarse voice.[] facial features, developmental delay, and an elevated quantitative urine glycosaminoglycan (GAG) level.[]

  • Mucopolysaccharidosis 2

    delay, and intellectual disability.[] Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[] The vocal cords also enlarge, which results in a deep, hoarse voice.[]

  • Mucopolysaccharidosis 1

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

  • Congenital Hypothyroidism

    A 3-year-old girl had global developmental delay with dysmorphic facies. In addition, she was found to have congenital hypothyroidism.[] 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 ([] The symptoms of congenital hypothyroidism may include the following: Puffy face Coarse facial features Dull look Thick protruding tongue Poor feeding Choking episodes Constipation[]

  • Costello Syndrome

    delays FCS SYNDROME Faciocutaneoskeletal Syndrome CSTLO COSTELLO SYNDROME Myopathy, Congenital, With Excess of Muscle Spindles COSTELLO SYNDROME; CSTLO edit English Costello[] 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[] facial features and skeletal and cardiac abnormalities.[]

  • Mucolipidosis

    Both surviving children had severe global developmental delay at 2 months of age.[] Vocal cords can stiffen, resulting in a hoarse voice. The airway is narrow, which can contribute to prolonged or recurrent respiratory infections.[] 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[]

  • Mucopolysaccharidosis 1H

    Developmental: Developmental delay occurs in children with MPS1H which usually manifests by the age of 12 to 24 months.[] Vocal cords can also enlarge, resulting in a deep, hoarse voice.[] Note his coarse facial features, crouched stance, thickened digits, and protuberant abdomen. Transgenic mice with a targeted disruption of a -L-iduronidase .[]

  • Alpha-Mannosidosis

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

  • Farber Disease

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

  • Mucopolysaccharidosis 1 H-S

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

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