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98 Possible Causes for Coarse Facial Features, Hoarseness, Saddle Nose

  • 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]

  • Syphilis

    […] triad A50.54 Late congenital cardiovascular syphilis A50.55 Late congenital syphilitic arthropathy A50.56 Late congenital syphilitic osteochondropathy A50.57 Syphilitic saddle[icd10data.com] We present a 53-year-old woman with an unusual truncal rash with painful anogenital lesions, accompanied by patchy alopecia, oral lesions, photophobia and hoarseness.[ncbi.nlm.nih.gov] Salient features are coarse movements, dull facial expression, increased muscle reflexes and pupil abnormalities. At the late stage seizures may occur.[alzheimer-europe.org]

  • Mucopolysaccharidosis 1

    On examination, child had dysmorphic features such as frontal bossing, hypertelorism, saddle nose, low-set ears, macroglossia, short stature, short neck, kyphosis of lumbar[jcor.in] 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]

  • Congenital Hypothyroidism

    nose.[scielo.br] 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]

  • Alpha-Mannosidosis

    Note enlarged head, short neck, rounded eyebrows, saddle nose, and prominent forehead. B. Same twins aged 8 years. Note slight muscular atrophy of the hands. C.[commons.wikimedia.org] 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]

  • Mucopolysaccharidosis 6

    On examination, child had dysmorphic features such as frontal bossing, hypertelorism, saddle nose, low-set ears, macroglossia, short stature, short neck, kyphosis of lumbar[jcor.in] 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] 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]

  • Simpson Dysmorphia Syndrome

    nose, cleft palate, progressive deafness Shprintzen-Goldberg syndrome 182212 AD craniosynostosis, microcephaly, maxillary and mandibular hypoplasia, palatal shelf soft tissue[widesmiles2.org] […] 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]

  • Mucopolysaccharidosis 1S

    On examination, child had dysmorphic features such as frontal bossing, hypertelorism, saddle nose, low-set ears, macroglossia, short stature, short neck, kyphosis of lumbar[jcor.in] Vocal cords can also enlarge, resulting in a deep, hoarse voice.[ghr.nlm.nih.gov] Individuals with MPS disorders share many similar symptoms such as multiple organ involvement, distinctive “coarsefacial features, and abnormalities of the skeleton especially[rarediseases.org]

  • Laron Syndrome with Immunodeficiency

    Patients may present dysmorphic facial features, including a prominent forehead and saddle nose, and truncal obesity.[symptoma.com] Feeding difficulties in infancy Delayed ability to walk Hyperventilation Redundant neck skin Ventricular hypertrophy Abnormal palate morphology Abnormality of the fingernails Hoarse[mendelian.co] Periodontitis, Aggressive, 1 1 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease 11 Peripheral Neuropathy, Myopathy, Hoarseness[preventiongenetics.com]

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