oculocerebrorenal syndrome
- oculocerebrorenal syndrome
oc·u·lo·ce·re·bro·re·nal syndrome .äk-yə-(.)lō-sə-.rē-brō-'rēn-əl-, -.ser-ə-brō- n a rare human developmental disorder that is inherited as an X-linked recessive trait and that is marked by congenital cataracts, glaucoma, and abnormal nystagmus affecting the eyes, by severe mental retardation, generalized hypotonia, and absence of or reduction in certain tendon reflexes due to defects in the central nervous system, and by acidosis and hyperaminoaciduria due to defects in the renal tubules
called also Lowe syndrome
* * *
an X-linked disorder characterized by vitamin D–refractory rickets, hydrophthalmia, congenital glaucoma and cataracts, mental retardation, and tubule reabsorption dysfunction as evidenced by hypophosphatemia, acidosis, and aminoaciduria. Called also Lowe disease and Lowe-Terrey-MacLachlan s.
Medical dictionary.
2011.
Look at other dictionaries:
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