Mietens syndrome
Definicija
Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.
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Pun naziv
Mietens syndrome
Kratki naziv
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Sinonimi
Intellectual disability, Mietens-Weber type
Orpha broj
Kategorija
Podkategorija
Naziv na stranom jeziku
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Prevalenca
NULL
Nasleđivanje
Autosomal recessive
Period početka bolesti
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ICD 10
OMIM
UMLS
GARD
MEDDRA
Tekstualni opis
Ocular findings are striking. Dysmorphic features are not characteristic except for a small pinched nose and a depressed nasal root. Intellectual deficit and growth delay are observed in the majority of patients.
Etiologija
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Prognoza
bolest_prognoza
Diferencijalna dijagnoza
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Tretman
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Dijagnostičke metode
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Antenatalna dijagnoza
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Epidemiologija
To date, only nine cases have been reported.
Genetsko savetovanje
An autosomal recessive pattern of inheritance is probable.
Terapija
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Klinička istraživanja
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