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293 Possible Causes for Hoarseness, Retinal Degeneration, Round Face

  • Mucopolysaccharidosis 2

    Typical signs and symptoms include: Hearing impairment Joint stiffness Coarse face Upper airway disease Carpal tunnel syndrome Communicating hydrocephalus Retinal degeneration[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] The vocal cords also enlarge, which results in a deep, hoarse voice.[ghr.nlm.nih.gov]

  • Mucopolysaccharidosis

    Vocal cords can also enlarge, resulting in a deep, hoarse voice.[ghr.nlm.nih.gov] degeneration Hearing impairment – Deafness Musculoskeletal disease – Short stature; joint stiffness; symptoms of peripheral nerve entrapment Findings from examination may[emedicine.medscape.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 1

    Additional signs and symptoms that may develop include: Enlarged head Chronic nasal discharge Retinal degeneration Splenomegaly Enlarged abdominal organs Skeletal dysplasia[medicinenet.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] degeneration - nanophthalmos - glaucoma1278 Brain calcification, Rajab type 8 cases 1574 Retinohepatoendocrinologic syndrome 7 cases178506 Campomelia, Cumming type 8 cases[fliphtml5.com]

  • Autosomal Recessive Spastic Paraplegia Type 49

    […] syndrome Radial hypoplasia, triphalangeal thumbs and hypospadias Limb-girdle muscular dystrophy Intestinal atresia multiple Autosomal recessive Charcot-Marie-Tooth disease with hoarseness[checkrare.com] This HSP is characterized by early onset of spastic paraplegia, motor development delaying, mental retardation, dysmorphic features (short stature, round face, low anterior[intechopen.com] degeneration, or muscle atrophy, depending on which gene is causative.[invitae.com]

  • Bonnemann-Meinecke-Reich Syndrome

    […] dysplasia Hypoplasia of penis Beaking of vertebral bodies Broad neck Protruding tongue Amelogenesis imperfecta Metaphyseal dysplasia Peripheral axonal neuropathy Sacral dimple Hoarse[mendelian.co] face Optic nerve hypoplasia Plagiocephaly Multifocal cerebral white matter abnormalities Type I transferrin isoform profile Areflexia Visual loss Intrauterine growth retardation[mendelian.co] Peripheral Retinal Degeneration Information on Peripheral Retinal Degeneration Peripheral Retinal Degeneration is a very common disease.[altiusdirectory.com]

  • Smith-Magenis Syndrome

    The main clinical features consist of a broad flat midface with brachycefaly, broad nasal bridge, brachydactily, speech delay, hoarse deep voice and peripheral neuropathy.[ncbi.nlm.nih.gov] The characteristic face of Smith-Magenis syndrome is round or square with a flattened midface. The eyes slant upwards and are relatively close set.[jmg.bmj.com] […] and lattice retinal degeneration.[ncbi.nlm.nih.gov]

  • Stickler Syndrome

    […] syndrome Radial hypoplasia, triphalangeal thumbs and hypospadias Limb-girdle muscular dystrophy Intestinal atresia multiple Autosomal recessive Charcot-Marie-Tooth disease with hoarseness[checkrare.com] Most also have a characteristic face with flat cheekbones.[dbproject.mn.org] The ocular findings, frequently bilateral, consisted of radial perivascular retinal degeneration (RPRD) (100%), vitreous syneresis (100%), high myopia (76%), retinal detachment[ncbi.nlm.nih.gov]

  • High Myopia-Sensorineural Deafness Syndrome

    […] and radial perivascular retinal Lattice degeneration, both of which are present in up to 100% of affected patients [4].[eyewiki.aao.org] Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD) AD/AR 32 58 MSRB3 Deafness AR 5 2 MYH14 Deafness, Peripheral neuropathy, myopathy, hoarseness[blueprintgenetics.com] The facial features of Marshall Syndrome include a flat midface, the appearance of large eyes, short upturned nose, and a round face.[wikidoc.org]

  • Retinohepatoendocrinologic Syndrome

    Local spread may cause hoarseness, dysphagia and dyspnoea. Diarrhoea may also occur. Metastases may occur, especially to the lung, liver and bone.[patient.info] Anthropometric and growth measures Individuals with AS often have distinctive facial features, such as round face, deep-set eyes, thick ears, dental anomalies, hyperostosis[ojrd.biomedcentral.com] Artery Occlusion Retinal Degeneration Retinal Degeneration - Nanophthalmos - Glaucoma Retinal Detachment Retinal Detachment and Retinal Tear Retinal Disinsertion Syndrome[healthgrades.com]

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