spastic paraplegia-neuropathy-poikiloderma syndrome
Findings
No curated finding names spastic paraplegia-neuropathy-poikiloderma syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spastic paraplegia-neuropathy-poikiloderma syndrome is a complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992.
Definition from the Mondo Disease Ontology (MONDO:0008442), read 2026-09-29. CC BY 4.0.
Features
8 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.
- Basal lamina onion bulb formationHPOHP:0003400
- Frequent (30% to 79% of cases)
- Demyelinating peripheral neuropathyHPOHP:0007108
- Frequent (30% to 79% of cases)
- Distal amyotrophyHPOHP:0003693
- Frequent (30% to 79% of cases)
- Loss of eyelashesHPOHP:0011457
- Frequent (30% to 79% of cases)
- PoikilodermaHPOHP:0001029
- Frequent (30% to 79% of cases)
- Progressive spastic paraplegiaHPOHP:0007020
- Frequent (30% to 79% of cases)
- Sensorimotor neuropathy
Where it sits
Other names
1 name
Resolves to: spastic paraplegia-neuropathy-poikiloderma syndrome
- Also called
- Antinolo-Nieto-Borrego syndrome