Overview
Tibial aplasia and ectrodactyly 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.
Split hand
Very frequent (80-99%)HP:0001171
Aplasia/Hypoplasia of the tibia
Frequent (30-79%)HP:0005772
Limitation of joint mobility
Frequent (30-79%)HP:0001376
Lobster claw hand
Frequent (30-79%)HP:0100257
Abnormal fibula morphology
Occasional (5-29%)HP:0002991
Abnormality of the thighbone
Occasional (5-29%)HP:0002823
Bowed femura
Occasional (5-29%)HP:0002980
Brachydactyly
Occasional (5-29%)HP:0001156
Hypoplasia or unilateral/bilateral absence of ulna
Occasional (5-29%)HP:0006495
Omphalocoele
Occasional (5-29%)HP:0001539
Overfolded helix
Occasional (5-29%)HP:0000396
Partial syndactyly
Occasional (5-29%)HP:0006101
Patellar aplasia
Occasional (5-29%)HP:0006443
Popliteal pterygium
Occasional (5-29%)HP:0009756
Postaxial hand polydactyly
Occasional (5-29%)HP:0001162
Preaxial hand polydactyly
Occasional (5-29%)HP:0001177
Short femur
Occasional (5-29%)HP:0003097
Short fibula
Occasional (5-29%)HP:0003038
Absent forearm
HP:0005632
Absent middle finger
HP:0009460
Absent shinbone
HP:0009556
Foot ectrodactyly
HP:0001839
Hand monodactyly
HP:0004058
Short hallux
HP:0010109
Simple, cup-shaped ears
HP:0000378
Quick Facts
- SNOMED CT
- 715531000
- UMLS CUI
- C4551989
- Fully Specified Name
- Tibial aplasia and ectrodactyly syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 25
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.