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270 Possible Causes for Coarse Facial Features, Hoarseness, Round Face

  • Mucopolysaccharidosis 2

    Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[secure.ssa.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] […] resulting in large rounded cheeks and thick lips – generally manifests between ages 18 months and four years in the early progressive form and about two years later for those[ncbi.nlm.nih.gov]

  • 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 1

    Further common findings are coarse facial features, carpal tunnel syndrome, umbilical and inguinal hernia, and hepatomegaly.[symptoma.com] Vocal cords can also enlarge, resulting in a deep, hoarse voice.[ghr.nlm.nih.gov] 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]

  • Spondyloepiphyseal Dysplasia Type Cantú

    A coarse voice may also be described as hoarse or raspy. A person with SED-BDS will have small, droopy eyelids.[crm.diseaseinfosearch.org] : long philtrum round face midface hypoplasia coarse facies Skeletal Hands: brachydactyly short hands small carpals short, tapered phalanges single interphalangeal crease[malacards.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]

  • Hypothyroidism

    Hypothyroidism symptomatology was similar in both groups, except for a greater frequency of hoarseness in the group with HAH.[ncbi.nlm.nih.gov] At clinical examination, she presented with bradycardia, pale and round face, pseudohypertrophy of calf muscles and no pitting edema of the limbs.[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]

  • Juvenile Myxedema

    Symptoms of this rare but potentially deadly complication include enlarged tongue, swollen facial features, hoarseness, and physical and mental sluggishness.[medical-dictionary.thefreedictionary.com] Clinical features    Stature Shortened finger Osteoma cutis ORAL MANIFESTATIONS   Facial features-mid facial hypoplasia, the face is rounded in appearance Teeth- generalized[slideshare.net] […] consumption of goitrogens (e.g. cassava) Symptoms of hypothyroidism Tiredness, weakness Dry skin Feeling cold Hair loss Constipation Weight gain with poor appetite Dyspnea Hoarse[quizlet.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] , round face, hypoplastic supraorbital ridge, epicanthus, cleft palate TM Diastrophic dysplasia sulfate transporter DTDST 5q32-q33.1 222600 Diastrophic dysplasia 222600 AR[widesmiles2.org] 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]

  • Weaver Syndrome

    Craniofacial features of Simpson-Golabi-Behmel syndrome (SGB; OMIM 312870) include macrocephaly ( 75%), coarse facial features and square face ( 90%), downslanting palpebral[karger.com] Like most other patients with Weaver syndrome, she was developmentally delayed, hypertonic, and had a hoarse voice.[ncbi.nlm.nih.gov] , round face, abnormal positioning of the jaw, and a prominent chin with a central dimple.[medindia.net]

  • Aspartylglucosaminuria

    In some, the voice becomes hoarse.[mun-h-center.se] , thick lips and a square shape of face, was found to be present long before the coarsening begins.[ncbi.nlm.nih.gov] facial features, and skeletal abnormalities become evident by adolescence.[medical-dictionary.thefreedictionary.com]

  • Hypertrichotic Osteochondrodysplasia

    Vertebral fusion Supernumerary nipple Nephroblastoma Hydroureter Vertebral segmentation defect Preauricular pit Relative macrocephaly Abnormality of the voice Duodenal atresia Hoarse[mendelian.co] face-developmental delay syndrome Congenital joint dislocations Congenital knee dislocation Congenital limb malformation Congenital muscular dystrophy with cerebellar involvement[se-atlas.de] […] 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]

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