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Congenital ichthyosis-microcephalus-tetraplegia syndrome
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. There have been no further descriptions in the literature since 1995.
ORPHA:2271
Classification level: Disorder
- Congenital ichthyosis-microcephalus-quadriplegia syndrome
Source: PubMed ID 7619196
Prevalence: <1 / 1 000 000
Inheritance: Unknown
Age of onset: Infancy, Neonatal
ICD-10: Q87.8
UMLS: C5679626
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
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