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3,907 Possible Causes for Congenital Hip Dysplasia, Disharmonic Maturation of Phalanges and Carpal Bones, Hearing Impairment

  • Mucopolysaccharidosis

    During 36 months of ERT, symptoms typical of MPS VI including short stature, progressive dysmorphic facial features, hepatosplenomegaly, hearing impairment, corneal clouding[ncbi.nlm.nih.gov] impairment – Deafness Musculoskeletal disease – Short stature; joint stiffness; symptoms of peripheral nerve entrapment Findings from examination may include the following[emedicine.medscape.com] The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema.[icd9data.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Turner Syndrome

    ., horseshoe kidney, duplicated or cleft renal pelvis), autoimmune thyroiditis, celiac disease, congenital hip dysplasia, and scoliosis. 11 Girls with Turner syndrome typically[aafp.org] impairment Deafness Hearing defect [ more ] 0000365 Hepatic steatosis Fatty infiltration of liver Fatty liver [ more ] 0001397 High, narrow palate Narrow, high-arched roof[rarediseases.info.nih.gov] […] developmental dysplasia of the hip occurs more frequently in girls with Turner syndrome than in the general population. 52, 57 This contributes to the development of arthritis[doi.org]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Mucopolysaccharidosis 2

    The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema.[icd10data.com] Typical signs and symptoms include: Hearing impairment Joint stiffness Coarse face Upper airway disease Carpal tunnel syndrome Communicating hydrocephalus Retinal degeneration[symptoma.com] . [18, 19, 20] Hearing impairment progresses to profound deafness.[emedicine.medscape.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Mucopolysaccharidosis 6

    Abstract Objective The aim of our study is to reflect hearing impairment of 23 children diagnosed with mucopolysaccharidosis (MPS) type I, II, III and IV.[elsevier.es] impairment, and hyperactivity with aggressive behavior. 4 – 6 Carpal and tarsal tunnel syndromes represent the most common features of peripheral nervous system impairment[ajnr.org] […] vision Recurrent otitis media Impaired hearing Recurrent sinopulmonary infections Upper airway obstruction Sleep apnea Reduced pulmonary function Cardiac abnormalities and[biomarin.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Seckel Syndrome

    ; (3) marked disharmonic bone maturation between carpals and phalanges, between individual carpals, and from side to side; (4) alteration in the length of the hand bones,[ncbi.nlm.nih.gov] Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability.[ncbi.nlm.nih.gov] The radiological findings included: (1) ivory epiphyses affecting all phalanges in one patient and many phalanges in another; (2) cone-shaped epiphyses in the proximal phalanges[ncbi.nlm.nih.gov]

  • Congenital Deafness

    Three of 39 hearing impaired subjects were excluded; one due to insufficient information on the probable cause of the hearing impairment and the other two due to a non-genetic[nature.com] hip dysplasia Euthyroid goitre Facial nerve paresis Gustatory lacrimation Non-rotation of the gastrointestinal tract Pancreatic duplication cyst Temporoparietal linear naevus[academic.oup.com] Newborns from across Victoria diagnosed with permanent hearing impairment in both ears of moderate or greater severity are being offered genomic sequencing in addition to[melbournegenomics.org.au]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Sotos Syndrome

    Other signs of this syndrome are scoliosis, seizures, cardiac or renal defects, visual or hearing impairments.[epainassist.com] Other signs of this syndrome are scoliosis , seizures, cardiac or renal defects, visual or hearing impairments.[epainassist.com]

    Missing: Congenital Hip Dysplasia
  • Susac Syndrome

    impairment.[ncbi.nlm.nih.gov] SG’s past medical history was remarkable only for congenital left hip dysplasia.[the-rheumatologist.org] […] mediated by an autoimmune response to an as yet unknown antigen--lead to a characteristic clinical triad of CNS dysfunction, branch retinal artery occlusions, and sensorineural hearing[ncbi.nlm.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Gingival Fibromatosis-Progressive Deafness Syndrome

    […] loss. 0000684 Gingival fibromatosis 0000169 Gingival overgrowth Gum enlargement 0000212 Sensorineural hearing impairment 0000407 Percent of people who have these symptoms[rarediseases.info.nih.gov] […] spine disease Spinocerebellar ataxia 11 Congenital contractural arachnodactyly Microphthalmia syndromic 6 Glucocorticoid-remediable aldosteronism Ectodermal dysplasia, hidrotic[checkrare.com] […] is not available through HPO Autosomal dominant inheritance 0000006 Progressive sensorineural hearing impairment 0000408 Showing of 6 Last updated: 5/1/2019 The exact, underlying[rarediseases.info.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Fanconi Anemia

    Less common abnormalities may also be associated with Fanconi anemia including abnormalities of the middle ears resulting in hearing impairment (conductive hearing loss).[web.archive.org] hip dysplasia scoliosis vertebral anomalies Treatment and prognosis The main cause of mortality is from marrow failure.[radiopaedia.org] […] f type g type i type j type l type m type n Although non-specific, commonly described features include: radial ray anomalies : including absent thumb triphalangeal thumb congenital[radiopaedia.org]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones

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