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241 Possible Causes for Broad Nasal Bridge, Coarse Facial Features, Hoarseness

  • Mucopolysaccharidosis 2

    Coarsening of facial features – the result of macroglossia, prominent supraorbital ridges, a broad nose, a broad nasal bridge, and deposition of GAG in the soft tissues of[ncbi.nlm.nih.gov] 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]

  • Mucopolysaccharidosis

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

  • Mucopolysaccharidosis 6

    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] Presentation Patient with coarse facial features, cardiac murmure, gibbus and dental decay.[radiopaedia.org]

  • Hypertrichotic Osteochondrodysplasia

    Clinical description Dysmorphic features include macrocephaly and a coarse facial appearance with thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted[orpha.net] Vertebral fusion Supernumerary nipple Nephroblastoma Hydroureter Vertebral segmentation defect Preauricular pit Relative macrocephaly Abnormality of the voice Duodenal atresia Hoarse[mendelian.co] […] of head or neck Anteverted nares Coarse facial features Curly eyelashes Epicanthus Large sella turcica Long philtrum Low anterior hairline Low posterior hairline Macrocephaly[familydiagnosis.com]

  • Simpson Dysmorphia Syndrome

    An X-linked dysmorphia complex [MIM 312870] which is characterised by a large, square protruding jaw, a broad nasal bridge, an upturned nose tip, and macroglossia, resulting[medical-dictionary.thefreedictionary.com] 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] […] 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]

  • Spondyloepiphyseal Dysplasia Type Cantú

    Symptoms via clinical synopsis from OMIM: 57 Head And Neck Neck: short neck wide neck Head And Neck Nose: depressed nasal bridge broad nasal bridge upturned nose Skeletal[malacards.org] A coarse voice may also be described as hoarse or raspy. A person with SED-BDS will have small, droopy eyelids.[crm.diseaseinfosearch.org] facial features Coarse facial appearance 0000280 Delayed epiphyseal ossification 0002663 Flexion contracture Flexed joint that cannot be straightened 0001371 High pitched[rarediseases.info.nih.gov]

  • Costello Syndrome

    Webbed (syndactyly), elongated and permanently bent (camptodactyly) fingers are common A broad forehead, wide nasal bridge, nostrils that tip forward, upwardly slanted eyelids[verywellhealth.com] 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]

  • Pallister W Syndrome

    nasal bridge.[ucsdguardian.org] Degeneration of Brain OMIM:618124 Peripheral Neuropathy, Autosomal Recessive, with or without Impaired Intellectual Development; PNRIID OMIM:614369 Peripheral Neuropathy, Myopathy, Hoarseness[informatics.jax.org] 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

    bridge with broad nasal tip and anteverted nostrils, full cheeks and enlarged lips), cardiomyopathy and valvular abnormalities, neurosensorial hearing loss, enlarged tonsils[orpha.net] 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]

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