Overview
Tel Hashomer camptodactyly 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.
Abnormal dermatoglyphics
HP:0007477
Abnormal electromyography finding
HP:0003457
Camptodactyly
HP:0012385
Contractures of the hands
HP:0009473
Decreased thenar eminence
HP:0001245
Dermatoglyphic ridges abnormal
HP:0005689
Elevated circulating creatine phosphokinase
HP:0003236
Foot, talipes equinovarus
HP:0001762
Increased distance between eyes
HP:0000316
Increased length of philtrum
HP:0000343
Inguinal hernia
HP:0000023
Mitral valve prolapse
HP:0001634
Skeletal dysplasia
HP:0002652
Small hypothenar eminence
HP:0010487
Split spine
HP:0002414
Related Conditions
Multiple malformation syndrome with facial-limb defects as major feature(parent)
Camptodactyly(parent)
Recessive hereditary disorder (autosomal)(parent)
Hereditary disorder of musculoskeletal system(parent)
Congenital anomaly of finger(parent)
Developmental hereditary disorder(parent)
Congenital deformity of hand(parent)
Quick Facts
- SNOMED CT
- 719946008
- UMLS CUI
- C1859356
- Fully Specified Name
- Tel Hashomer camptodactyly syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 15
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.