Overview
Acropectorovertebral 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.
Broad thumbs
Very frequent (80-99%)HP:0011304
Distal phalangeal hypoplasia
Very frequent (80-99%)HP:0009882
Fusion of wrist bones
Very frequent (80-99%)HP:0005048
Partial syndactyly
Very frequent (80-99%)HP:0006101
Pectus excavatum
Very frequent (80-99%)HP:0000767
Tarsal bone synostosis
Very frequent (80-99%)HP:0008368
Triphalangy of thumb
Very frequent (80-99%)HP:0001199
Mental retardation, mild
Frequent (30-79%)HP:0001256
Split spine
Frequent (30-79%)HP:0002414
Cleft of palate
Occasional (5-29%)HP:0000175
Narrow, high-arched roof of mouth
Occasional (5-29%)HP:0002705
Proximal interphalangeal finger joint contractures
Occasional (5-29%)HP:0100490
Abnormal skeletal development
HP:0002652
Abnormality of the chest
HP:0000765
Fusion of hamate and capitate
HP:0001241
Notched outermost bone of thumb
HP:0009611
Radially deviated index finger
HP:0009467
Spina bifida occulta at L5
HP:0004601
Spina bifida occulta at S1
HP:0004614
Syndactyly of feet
HP:0001770
Thumb hypoplasia
HP:0009778
Vertebral anomalies
HP:0003468
Related Conditions
Autosomal dominant hereditary disorder(parent)
Multiple malformation syndrome with limb defect as major feature(parent)
Congenital anomaly of spine(parent)
Dysostosis(parent)
Congenital malformation of sternum(parent)
Hereditary disorder of musculoskeletal system(parent)
Congenital anomaly of digit(parent)
Disorder of vertebral column(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 720457000
- UMLS CUI
- C1863307
- Fully Specified Name
- Acropectorovertebral dysplasia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 22
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.