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Hypomyelination-congenital cataract syndrome

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Disease definition

A rare developmental defect during embryogenesis characterized by congenital or early onset cataracts (usually bilateral), developmental delay, progressive neurologic symptoms (including ataxia, spasticity and sometimes seizures) and mild-to-moderate cognitive impairment. Other major clinical features include truncal hypotonia, dysarthia, cerebellar signs (e.g: truncal titubation and intention tremor) and peripheral neuropathy (e.g: progressive weakness of the muscles in the lower limbs). Hypomyelination associated with periventricular white matter abnormalities is observed. Some patients may have mild lens opacity and cataracts could be absent.

ORPHA:85163

Classification level: Disorder

Prevalence: <1 / 1 000 000

Inheritance: Autosomal recessive

Age of onset: Infancy, Neonatal

ICD-10: G37.8

OMIM: 610532

UMLS: C1864663

MeSH: C567166

GARD: 11980

A summary on this disease is available in Français (2009) Español (2009) Deutsch (2009) Italiano (2009) Português (2009) Nederlands (2009)
Detailed information
Disease review articles
Review article
English (2011) - Expert Rev Neurother
Clinical genetics review
English (2021) - GeneReviews

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

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