Overview
Brachydactyly type B2 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.
Distal symphalangism of hands
Always present (100%)HP:0001204
Fused innermost hinge joints
Always present (100%)HP:0006152
Fused wrist bones
Always present (100%)HP:0009702
Anonychia of fingernails
Very frequent (80-99%)HP:0001817
Short distal phalanx of toe
Very frequent (80-99%)HP:0001857
Short toes
Very frequent (80-99%)HP:0001831
Small feet
Very frequent (80-99%)HP:0001773
Type B brachydactyly
Very frequent (80-99%)HP:0005831
Absent interphalangeal creases
Frequent (30-79%)HP:0006109
Absent/hypoplastic terminal phalanges of toes
Frequent (30-79%)HP:0010185
Absent/small middle bones of toe
Frequent (30-79%)HP:0010194
Aplasia/Hypoplasia of the nails
Frequent (30-79%)HP:0008386
Attachment of thumb close to wrist
Frequent (30-79%)HP:0009623
Fusion of wrist bones
Frequent (30-79%)HP:0005048
Hypoplastic/aplastic middle phalanx
Frequent (30-79%)HP:0009843
Partial syndactyly
Frequent (30-79%)HP:0006101
Shortened 1st long bone of hand
Frequent (30-79%)HP:0010034
Small or absent distal phalanges
Frequent (30-79%)HP:0009835
Tarsal bone synostosis
Frequent (30-79%)HP:0008368
Webbed fingers
Frequent (30-79%)HP:0010554
Webbed skin of toes
Frequent (30-79%)HP:0010621
Hyperopia
Occasional (5-29%)HP:0000540
Sensorineural deafness
Occasional (5-29%)HP:0000407
Distal phalangeal hypoplasia
HP:0009882
Quick Facts
- SNOMED CT
- 770406002
- UMLS CUI
- C1969652
- Fully Specified Name
- Brachydactyly type B2 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 24
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.