Overview
Filippi 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.
Cognitive delay
Very frequent (80-99%)HP:0001263
Cryptorchidism
Very frequent (80-99%)HP:0000028
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Difficulty finding words
Very frequent (80-99%)HP:0002381
Dull intelligence
Very frequent (80-99%)HP:0001249
Echologia
Very frequent (80-99%)HP:0010529
Increased nasal width
Very frequent (80-99%)HP:0000445
Increased width of bridge of nose
Very frequent (80-99%)HP:0000431
Mutism
Very frequent (80-99%)HP:0002300
Permanent curving of the pinkie finger
Very frequent (80-99%)HP:0004209
Prominent nasal root
Very frequent (80-99%)HP:0000426
Short stature, severe
Very frequent (80-99%)HP:0003510
Small nasal alae
Very frequent (80-99%)HP:0000430
Specific learning disability
Very frequent (80-99%)HP:0001328
Aplastic/hypoplastic toenails
Frequent (30-79%)HP:0010624
Bilateral single transverse palmar creases
Frequent (30-79%)HP:0007598
Bulging forehead
Frequent (30-79%)HP:0011220
Clinodactyly of the 5th toe
Frequent (30-79%)HP:0001864
Decreased body height
Frequent (30-79%)HP:0004322
Decreased height of philtrum
Frequent (30-79%)HP:0000322
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
Frontal protuberance
Frequent (30-79%)HP:0002007
Hyperplasia of columella
Frequent (30-79%)HP:0010761
Involuntary muscle stiffness, contraction, or spasm
Frequent (30-79%)HP:0001257
Leg paralysis
Frequent (30-79%)HP:0010550
Limb dystonia
Frequent (30-79%)HP:0002451
Limitation of joint mobility
Frequent (30-79%)HP:0001376
Optic atrophy
Frequent (30-79%)HP:0000648
Peripheral hypotonia
Frequent (30-79%)HP:0001252
Retarded ossification
Frequent (30-79%)HP:0002750
Related Conditions
Multiple malformation syndrome with facial-limb defects as major feature(parent)
Recessive hereditary disorder (autosomal)(parent)
Dysostosis(parent)
Hereditary disorder of musculoskeletal system(parent)
Syndactyly(parent)
Developmental hereditary disorder(parent)
Congenital microcephalus(parent)
Genetic intellectual disability(parent)
Quick Facts
- SNOMED CT
- 720954000
- UMLS CUI
- C0795940
- Fully Specified Name
- Filippi syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.