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368 Possible Causes for Coarse Facial Features, Hoarseness, Multiple Congenital Anomalies

  • Mucopolysaccharidosis

    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] Patients also develop hepatosplenomegaly, frequent ear infections, and a thickening of the vocal cords and airway that leads to hoarseness and sleep apnea.[invitae.com]

  • Mucopolysaccharidosis 2

    Common signs and symptoms include a large head, full lips, large rounded cheeks, a broad nose, hoarse voice and an enlarged tongue (macroglossia).[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

    Vocal cords can also enlarge, resulting in a deep, hoarse voice.[ghr.nlm.nih.gov] Further common findings are coarse facial features, carpal tunnel syndrome, umbilical and inguinal hernia, and hepatomegaly.[symptoma.com] anomalies-hypotonia-seizures syndrome Multiple congenital anomalies-hypotonia-seizures syndrome type 2 Multiple mitochondrial DNA deletion syndrome Multiple mitochondrial[se-atlas.de]

  • Costello Syndrome

    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] Costello syndrome is a multiple congenital anomaly and mental retardation syndrome characterized by coarse face, loose skin, cardiomyopathy and predisposition to tumors.[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 4

    […] deformity, dorsolumbar kyphosis, increased anteroposterior diameter of chest, pectus excarinatum, waddling gait, pot belly, valgus deformity of both upper and lower limbs and hoarse[apicareonline.com] Patients may also have coarse facial features, although this is usually milder than that seen in MPSI or MPSII.[genedx.com] Patients also develop hepatosplenomegaly, frequent ear infections, and a thickening of the vocal cords and airway that leads to hoarseness and sleep apnea.[invitae.com]

  • Mucopolysaccharidosis 1H

    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] […] 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]

  • Simpson Dysmorphia Syndrome

    […] spastic paraplegia type 8 Autosomal dominant spastic paraplegia type 9 Autosomal dominant striatal neurodegeneration Autosomal recessive Charcot-Marie-Tooth disease with hoarseness[se-atlas.de] 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] […] and, in more severe cases, multiple congenital anomalies and mental retardation.[ncbi.nlm.nih.gov]

  • Hypothyroidism

    Hypothyroidism symptomatology was similar in both groups, except for a greater frequency of hoarseness in the group with HAH.[ncbi.nlm.nih.gov] Other findings may include pale, yellow skin, thin and brittle hair, coarse facial features, brittle nails, firm swelling of the arms and legs, and mental slowing.[uclahealth.org] congenital musculoskeletal anomalies.[web.archive.org]

  • Aspartylglucosaminuria

    In some, the voice becomes hoarse.[mun-h-center.se] facial features, and skeletal abnormalities become evident by adolescence.[medical-dictionary.thefreedictionary.com] congenital anomaly/intellectual disability syndrome in Finland. [7] See also [ edit ] Inborn error of metabolism References [ edit ] External links [ edit ] Aspartylglycosaminuria[en.wikipedia.org]

  • Williams-Beuren Syndrome

    Abstract The voice of persons with Williams syndrome (WS) is described as hoarse with a deep and unstable fundamental frequency (f0).[ncbi.nlm.nih.gov] She had hypotonia and large tongue, "coarse" face, and umbilical hernia in presence of complex congenital cardiovascular malformations.[ncbi.nlm.nih.gov] congenital anomalies/dysmorphic syndrome-intellectual disability, malformation syndrome with short stature, genetic hypertension, partial deletion of the long arm of chromosome[commons.wikimedia.org]

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