Overview
Camptodactyly syndrome Guadalajara type 2 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.
Cuboid-shaped vertebral bodies
Very frequent (80-99%)HP:0004634
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Dislocated femoral heads
Very frequent (80-99%)HP:0002827
Fetal foot inversion
Very frequent (80-99%)HP:0001762
Hypoplastic labia
Very frequent (80-99%)HP:0000066
Intrauterine growth retardation, IUGR
Very frequent (80-99%)HP:0001511
Patellar hypoplasia
Very frequent (80-99%)HP:0003065
Pectus excavatum
Very frequent (80-99%)HP:0000767
Proximal interphalangeal finger joint contractures
Very frequent (80-99%)HP:0100490
Short 3rd toe
Very frequent (80-99%)HP:0005643
Short little toe
Very frequent (80-99%)HP:0011917
Short second toe
Very frequent (80-99%)HP:0001885
Related Conditions
Multiple malformation syndrome with limb defect as major feature(parent)
Recessive hereditary disorder (autosomal)(parent)
Skeletal dysplasia(parent)
Hereditary disorder of musculoskeletal system(parent)
Congenital anomaly of skeletal bone(parent)
Developmental hereditary disorder(parent)
Camptodactyly of finger(parent)
Quick Facts
- SNOMED CT
- 720603002
- UMLS CUI
- C2931680
- Fully Specified Name
- Camptodactyly syndrome Guadalajara type 2 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 13
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.