Knobloch syndrome
Knobloch's syndrome
Knobloch syndrome is a rare recessive disease characterized by severe ocular alterations, including vitreoretinal degeneration associated with retinal detachment and occipital scalp defect.
Synopsis
ocular anomalies
- high myopia
- vitreoretinal degeneration with retinal detachment
- retinal detachment
cerbral anomalies
- occipital encephalocele
- meningocele
- normal intelligence
unusual palmar creases
occipital scalp defects with heterotopic neuronal tissue
Etiology
mutations of COL18A1 at 21q22.3 (#12415512#)
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