multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
Findings
No curated finding names multiple sclerosis-ichthyosis-factor VIII deficiency syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.
Definition from the Mondo Disease Ontology (MONDO:0017837), read 2026-09-29. CC BY 4.0.
Features
12 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal leukocyte morphologyHPOHP:0001881
- Very frequent (80% to 99% of cases)
- Abnormal pyramidal signHPOHP:0007256
- Very frequent (80% to 99% of cases)
- Abnormality of coagulationHPOHP:0001928
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- DiplopiaHPOHP:0000651
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
- Ichthyosis