Overview
Fitzsimmons McLachlan Gilbert syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormality of the fingernails
Very frequent (80-99%)HP:0001231
Cone-shaped epiphyses
Very frequent (80-99%)HP:0010579
Dull intelligence
Very frequent (80-99%)HP:0001249
Hyperplasia of malar bones
Very frequent (80-99%)HP:0010620
Increased nasal height
Very frequent (80-99%)HP:0003189
Involuntary muscle stiffness, contraction, or spasm
Very frequent (80-99%)HP:0001257
Keratoderma
Very frequent (80-99%)HP:0000982
Spastic paraplegia
Very frequent (80-99%)HP:0001258
Spasticity of lower limb
Very frequent (80-99%)HP:0002061
Arachnodactyly
Frequent (30-79%)HP:0001166
Brachydactyly
Frequent (30-79%)HP:0001156
Brisk deep tendon reflexes
Frequent (30-79%)HP:0001348
High forehead
Frequent (30-79%)HP:0000348
Hypoplastic mandible
Frequent (30-79%)HP:0000347
Increased reflexes
Frequent (30-79%)HP:0001347
Loose-jointedness
Frequent (30-79%)HP:0001382
Sloping forehead
Frequent (30-79%)HP:0000340
Thinning scalp hair
Frequent (30-79%)HP:0002209
Abnormal curving of the cornea or lens of the eye
Occasional (5-29%)HP:0000483
Eye drop
Occasional (5-29%)HP:0000508
Involuntary, rapid, rhythmic eye movements
Occasional (5-29%)HP:0000639
High arched palate
HP:0000218
Mental retardation, mild
HP:0001256
Palmoplantar keratosis
HP:0000972
Pes cavus
HP:0001761
Tremor
HP:0001337
Related Conditions
Spastic paraplegia(parent)
Hereditary palmoplantar keratoderma(parent)
Hereditary disorder of nervous system(parent)
Developmental hereditary disorder(parent)
X-linked recessive hereditary disease(parent)
Talipes cavus(parent)
Inherited disorder of keratinization(parent)
Genetic intellectual disability(parent)
Quick Facts
- SNOMED CT
- 722209002
- UMLS CUI
- C2745996
- Fully Specified Name
- Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 26
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.