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Metaphyseal Chondrodysplasia - Retinitis pigmentosa Syndrome


Presentation

  • Nonspecific craniofacial dysmorphology features are frequently present including frontal bossing, macrocephaly, low-set ears, large columella, hypoplastic nares, and malar hypoplasia.[disorders.eyes.arizona.edu]
  • ORPHA:33067 Synonym(s): - Prevalence: Inheritance: Autosomal dominant Age of onset: Infancy , Neonatal ICD-10: Q78.5 OMIM: 156400 UMLS: C0265295 MeSH: C537564 GARD: 79 MedDRA: - The documents contained in this web site are presented for information purposes[orpha.net]
  • The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Most diagnosis of the disease occurs when children present with kidney failure – usually between the ages of 10 and 14. There are no known cures for the syndrome and management of the symptoms seems to be the typical approach.[en.wikipedia.org]
  • "[Pathogenesis and clinical presentation of andropause]". Pol. Merkur. Lekarski (in Polish). 32 (187): 70–3. PMID 22400185. 4.0 4.1 Saltzstein RJ, Hardin S, Hastings J (1992).[wikidoc.org]
Multiple Congenital Anomalies
  • congenital anomalies-intellectual disability-autism spectrum disorder ADULT syndrome AICA-ribosiduria ALG1-CDG ALG11-CDG ALG2-CDG ALG3-CDG ALG8-CDG ANE syndrome ATR-X-related syndrome Aarskog-Scott syndrome Absence deformity of leg-cataract syndrome[se-atlas.de]
  • Congenital Anomaly Syndrome DHDDS Retinitis Pigmentosa 59 Cone-Rod Retinal Dystrophy Pigmentary Retinopathy Rod-Cone Dystrophy RP Tapetoretinal Degeneration DLD Dihydrolipoamide Dehydrogenase Deficiency Msud3 Lipoamide Dehydrogenase Deficiency Maple[nxgenmdx.com]
  • congenital anomalies-hypotonia-seizures syndrome type 2 Pachydermoperiostosis X-linked intellectual disability - short stature ‚Äì obesity Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome Mosaic trisomy 22 Early Infantile Epileptic Encephalopathy[checkrare.com]
Physician
  • There are many physicians who do not have a desk computer or do not History feel at ease in using one.[books.google.com]
Hyperhidrosis
  • […] lichenoid dermatosis (退)* 【退行形成】【退形成】*retroplasia *anaplasia 【退縮眼振】*retractory nystagmus *nystagmus of retraction (太) 【太鼓バチ状指】【太鼓バチ指】*clubbed finger バチ状指、バチ指 (代) 【代謝疾患】*metabolic disease (体) 【体静脈狭窄】*systemic vein stenosis (多) 【多飲多食症】*polydipsia 【多汗症】*hyperhidrosis[medo.jp]
Dysarthria
  • […] refractive errors Spinocerebellar ataxia autosomal recessive 7 Agammaglobulinemia, non-Bruton type IL12RB1 deficiency MYD88 deficiency Goldmann-Favre syndrome Usher syndrome, type 1 Progressive deafness with stapes fixation Sensory ataxic neuropathy, dysarthria[checkrare.com]

Treatment

  • Treatment Treatment Options: No general treatment has been reported. Low vision aids and night vision devices may be helpful, especially for educational activities.[disorders.eyes.arizona.edu]
  • Acetazolamide in the treatment of X-linked retinoschisis maculopathy. Arch Ophthalmol. 2007;125:571-573. Grover S, Apushkin MA, Fishman GA. Topical dorzolamide for the treatment of cystoid macular edema in patients with retinitis pigmentosa.[rarediseases.org]
  • At the same time, it enables scientists to search the “de-identified” (i.e., anonymous) patient information to study conditions and identify targets for treatments, preventions and cures.[blindness.org]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]

Prognosis

  • Prognosis The prognosis mainly depends on the progression of the visual loss: blindness occurs in almost all cases between 50 and 70 years of age. The documents contained in this web site are presented for information purposes only.[orpha.net]

Etiology

  • Etiology So far, mutations in five genes ( MYO7A , USH1C , CDH23 , PCDH15 , USH1G ) and one locus ( USH1E ) have been implicated in US type 1.[orpha.net]

Epidemiology

  • Relevant External Links for CWC27 Genetic Association Database (GAD) CWC27 Human Genome Epidemiology (HuGE) Navigator CWC27 Atlas of Genetics and Cytogenetics in Oncology and Haematology: CWC27 No data available for Genatlas for CWC27 Gene Characterization[genecards.org]
  • Summary Epidemiology Prevalence is estimated at 1/30,000. US is the most common cause of hereditary combined deafness-blindness. Clinical description Onset usually occurs during childhood.[orpha.net]
Sex distribution
Age distribution

Pathophysiology

  • Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. Indian J Ophthalmol. 2016;64(9):620-7. Radtke ND, Aramant RB, Seiler MJ, Petry HM, Pidwell D.[rarediseases.org]

Prevention

  • ., anonymous) patient information to study conditions and identify targets for treatments, preventions and cures.[blindness.org]

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