Overview
Crisponi 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.
Cobb angle greater than ten degrees
Very frequent (80-99%)HP:0002650
Feeding difficulties
Very frequent (80-99%)HP:0011968
Flexion contractures
Very frequent (80-99%)HP:0001371
Hunched back
Very frequent (80-99%)HP:0002808
Hypertonia
Very frequent (80-99%)HP:0001276
Hypohidrosis
Very frequent (80-99%)HP:0000966
Increased length of philtrum
Very frequent (80-99%)HP:0000343
Large facies
Very frequent (80-99%)HP:0100729
Malignant hyperthermia
Very frequent (80-99%)HP:0002047
Nostrils anteverted
Very frequent (80-99%)HP:0000463
Proximal interphalangeal finger joint contractures
Very frequent (80-99%)HP:0100490
Respiratory function loss
Very frequent (80-99%)HP:0002093
Sudden cardiac death
Very frequent (80-99%)HP:0001645
Sweating
Very frequent (80-99%)HP:0000975
Cognitive deficits
Frequent (30-79%)HP:0100543
High arched palate
Frequent (30-79%)HP:0000218
Limitation of joint mobility
Frequent (30-79%)HP:0001376
Narrow mouth
Occasional (5-29%)HP:0000160
Poor school performance
Occasional (5-29%)HP:0001249
Seizures
Occasional (5-29%)HP:0001250
Arc de cercle
HP:0002179
Camptodactyly
HP:0012385
Corneal inflammation
HP:0000491
Decrease in jaw opening
HP:0000211
Decreased projection of lower jaw
HP:0000347
Depressed nasal root/bridge
HP:0005280
Facial palsy
HP:0010628
Fallen arches
HP:0001763
Feeding difficulties in infancy
HP:0008872
Fetal foot inversion
HP:0001762
Related Conditions
Multiple malformation syndrome with facial-limb defects as major feature(parent)
Camptodactyly(parent)
Hereditary disorder of musculoskeletal system(parent)
Cold-induced sweating syndrome(parent)
Congenital anomaly of finger(parent)
Developmental hereditary disorder(parent)
Congenital deformity of hand(parent)
Quick Facts
- SNOMED CT
- 725097006
- UMLS CUI
- C1832409
- Fully Specified Name
- Crisponi 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.