Overview
Hunter-Thompson dysplasia 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.
Short fibula
Always present (100%)HP:0003038
Abnormal vocalization
Very frequent (80-99%)HP:0002167
Abnormality of the ankle
Very frequent (80-99%)HP:0003028
Acromesomelia
Very frequent (80-99%)HP:0003086
Bilateral single transverse palmar creases
Very frequent (80-99%)HP:0007598
Brachydactyly
Very frequent (80-99%)HP:0001156
Severe short-limb dwarfism
Very frequent (80-99%)HP:0008890
Tarsal bone synostosis
Very frequent (80-99%)HP:0008368
Abnormality of pelvic girdle bone morphology
Frequent (30-79%)HP:0002644
Abnormally shaped wrist bones
Frequent (30-79%)HP:0006014
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Cognitive deficits
Frequent (30-79%)HP:0100543
Cuboidal metacarpal
Frequent (30-79%)HP:0006011
Dislocated femoral heads
Frequent (30-79%)HP:0002827
Dislocated patellae
Frequent (30-79%)HP:0002999
Shortened long bones of hand
Frequent (30-79%)HP:0010049
Stiff joint
Frequent (30-79%)HP:0001387
Distal femoral bowing
HP:0005096
Hypoplasia of the ulna
HP:0003022
Radial bowing
HP:0002986
Radial ray hypoplasia
HP:0002984
Radiohumeral dislocation
HP:0003042
Short skankbone
HP:0005736
Shortening of all middle phalanges of the fingers
HP:0006110
Shortening of all proximal phalanges of the fingers
HP:0006144
Single flexion crease
HP:0000954
Small feet
HP:0001773
Thumb hypoplasia
HP:0009778
Quick Facts
- SNOMED CT
- 389167007
- UMLS CUI
- C2930970
- Fully Specified Name
- Acromesomelic dysplasia Hunter-Thompson type (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 28
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.