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645 Possible Causes for Cystic Kidney, Eruptions, Hearing Impairment

  • Fabry Disease

    Anderson's patient was a male aged 39 years who had an eruption on his trunk, genitals and proximal limbs.[whonamedit.com] Configuration of hearing loss was classified according to the European Working Group on Genetics of Hearing Impairment.[ncbi.nlm.nih.gov] The patient was 13 years of age at the time, and 4 years previously had developed cutaneous eruptions in the hollow of his left knee, which spread to the left thigh and trunk[ncbi.nlm.nih.gov]

  • Gorlin Psaume Syndrome

    Abstract A case of a 10-year-old boy reported to us for delayed eruption of permanent teeth with classical features of orofacial digital syndrome (OFDS).[ijdr.in] Children with OFD II often have hearing loss due owing to impaired conductivity in the middle ear.[socialstyrelsen.se] Cystic kidneys in a patient with oral-facial-digitalsyndrome type I. Am J Kidney Dis 1982;1(5):288-293.19. Donnai D, Kerzin-Storrar L, Harris R.[docslide.us]

  • Gingival Fibromatosis-Progressive Deafness Syndrome

    Diseases related with Carcinoma and Delayed eruption of teeth In the following list you will find some of the most common rare diseases related to Carcinoma and Delayed eruption[mendelian.co] […] 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] Kidney Disease 1 1 Medullary Cystic Kidney Disease 2 1 Medulloblastoma 2 Meesmann Corneal Dystrophy 2 Megalencephalic Leukoencephalopathy With Subcortical Cysts 2 Megalencephalic[preventiongenetics.com]

  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    Abnormal webbing inside mouth - Inability to fully open mouth - Muscle problems - Long thin fingers - Permanent flexion of some fingers - Downturned mouth - Premature tooth eruption[checkorphan.org] impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Cryptorchidism Undescended testes Undescended testis [ more ] 0000028 Downslanted palpebral fissures[rarediseases.info.nih.gov] kidney polydactyly Multip [ edit ] Multiple a – Multiple p Multiple acyl-CoA deficiency Multiple carboxylase deficiency, biotin responsive Multiple carboxylase deficiency[en.wikipedia.org]

  • Sotos Syndrome

    Oral findings include prognathism and a high-arched palate with premature eruption of the teeth. Delayed psychomotor development increases the risk for caries.[ncbi.nlm.nih.gov] Other signs of this syndrome are scoliosis, seizures, cardiac or renal defects, visual or hearing impairments.[epainassist.com] Genitourinary anomalies including renal anatomical anomalies (bifid, duplex or absent kidneys, vesico-ureteric reflux, pelvo-ureteric junction obstruction), cystic kidneys[ncbi.nlm.nih.gov]

  • Robinow Syndrome

    Of special interest was the extent to which the patient's hyperplastic gingival tissues impeded both normal tooth eruption and orthodontic tooth movement.[ncbi.nlm.nih.gov] Bilateral conductive hearing impairment with hyperostosis of the temporal bone: a new finding in Robinow syndrome.[thritajournal.com] Two patients with Robinow syndrome and cystic kidney disease are described.[ncbi.nlm.nih.gov]

  • Mohr Syndrome

    Abstract A case of a 10-year-old boy reported to us for delayed eruption of permanent teeth with classical features of orofacial digital syndrome (OFDS).[ijdr.in] Carrier females may be mildly affected with mild hearing impairment and focal dystonia.[rarediseases.info.nih.gov] The patients also had hydronephros, and they later developed cystic kidney disease. There is debate whether this is a distinct type from OFDS I.[genome.gov]

  • Lytic Bone Lesion

    When the primary teeth first erupt, affected children often bite their fingertips or toes; in severe cases, they can chew or bite off the tips of their fingers or toes.[rarediseases.org] impairment Deafness Hearing defect [ more ] 0000365 Hypoplastic 5th lumbar vertebrae Underdeveloped 5th lumbar vertebrae 0008424 Joint hyperflexibility Joints move beyond[rarediseases.info.nih.gov] Kaplan P et. al. (1995) Cystic kidney disease in Hajdu-Cheney syndrome. [ ] 2.[moldiag.com]

  • Dubowitz Syndrome

    […] of teeth Delayed eruption Delayed teeth eruption Delayed tooth eruption Eruption, delayed Late eruption of teeth Late tooth eruption [ more ] 0000684 Dry skin 0000958 High[rarediseases.info.nih.gov] A fetus with 19q13.11 microdeletion presenting with intrauterine growth restriction and multiple cystic kidney . Case Rep. Perinat. Med. 1 , 69–74 (2012). 14.[nature.com] […] hormone deficiency, combined 3 Calabro syndrome Familial glucocorticoid deficiency Chromosome 2q24 microdeletion syndrome Maffucci syndrome Autosomal dominant medullary cystic[checkrare.com]

  • Acrootoocular Syndrome

    […] genetic Phenotypes Abnormality of abdomen morphology ; Anodontia ; Atresia of the external auditory canal ; Autosomal recessive inheritance ; Blepharophimosis ; Delayed eruption[mousephenotype.org] impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000407 9 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322 10 micrognathia 60 33 frequent (33%) Frequent[malacards.org] kidney disease with hyperuricemia [ ] Autosomal dominant medullary cystic kidney disease with or without hyperuricemia [ ] Autosomal dominant medullary cystic kidney disease[wikicure.wikia.com]

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