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405 Possible Causes for Coarse Facial Features, Hoarseness, Macrocephaly

  • 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] The patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with[ncbi.nlm.nih.gov]

  • 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] Symptoms include, macrocephaly, excessive accumulation of fluid in the brain, hepatosplenomegaly, sleep apnea, cornea clouding, spinal cord compression and cognitive impairment[raredr.com]

  • Launois Syndrome

    We report the first description of a Launois-Bensaude syndrome involving the orbit. Launois-Bensaude syndrome was diagnosed in a 70-year-old-man who presented with severe bilateral proptosis (Hertel value 26mm). We performed a bilateral transpalpebral orbital decompression by resection of intraorbital fat without[…][ncbi.nlm.nih.gov]

  • Acromegaly

    Decreased peripheral vision Easy fatigue Excessive height (when excess GH production begins in childhood) Excessive sweating Headache Heart enlargement, which can cause fainting Hoarseness[nlm.nih.gov] A 30-year-old Filipino man presented with a 11-year history of coarse facial features and progressive enlargement of hands and feet.[ncbi.nlm.nih.gov] We describe a 32 year old woman who presented at 6 months of age with isolated macrocephaly, followed by accelerated linear growth.[ncbi.nlm.nih.gov]

  • Costello Syndrome

    facial features and skeletal and cardiac abnormalities.[ncbi.nlm.nih.gov] 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] The most common prenatal findings in the literature and in this cohort were polyhydramnios and fetal overgrowth with relative macrocephaly.[ncbi.nlm.nih.gov]

  • 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] [symptoma.com] Macrocephaly Macrocephaly and sternal abnormalities can be present at birth, and inguinal/umbilical hernias are common.[symptoma.com]

  • 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] We report on 2 brothers with overgrowth, macrocephaly, polydactyly, supernumerary nipples, and characteristic facial appearance.[ncbi.nlm.nih.gov]

  • Gigantism

    Voice is hoarse and affected individuals have a plump, stocky body with pectus excavatum, thoracic scoliosis, hepatosplenomegaly, umbilical and/or inguinal hernias, broad[ncbi.nlm.nih.gov] Children with gigantism may also have coarse facial features which include a larger than normal head, flat nose, and large lips and tongue.[symptoma.com] Abstract We report on a neonate presenting with polyhydramnios; macrosomia; macrocephaly; visceromegaly including bilateral nephromegaly, hepatomegaly, cardiomegaly; thymus[ncbi.nlm.nih.gov]

  • Hypertrichotic Osteochondrodysplasia

    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] Clinical description Dysmorphic features include macrocephaly and a coarse facial appearance with thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted[orpha.net]

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