paraplegia-intellectual disability-hyperkeratosis syndrome
Findings
No curated finding names paraplegia-intellectual disability-hyperkeratosis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndrome characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition.
Definition from the Mondo Disease Ontology (MONDO:0010662), read 2026-09-29. CC BY 4.0.
Features
21 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 fingernail morphologyHPOHP:0001231
- Very frequent (80% to 99% of cases)
- Cone-shaped epiphysisHPOHP:0010579
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Long noseHPOHP:0003189
- Very frequent (80% to 99% of cases)
- Lower limb spasticityHPOHP:0002061
- Very frequent (80% to 99% of cases)
- Malar prominenceHPOHP:0010620
- Very frequent (80% to 99% of cases)
Show the remaining 9
- High foreheadHPOHP:0000348
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- Frequent (30% to 79% of cases)
- Joint hypermobilityHPOHP:0001382
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- Frequent (30% to 79% of cases)
- Sloping foreheadHPOHP:0000340
- Frequent (30% to 79% of cases)
- Sparse scalp hairHPOHP:0002209
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: paraplegia-intellectual disability-hyperkeratosis syndrome
- Also called
- Fitzsimmons-McLachlan-Gilbert syndrome