Overview
Autosomal recessive omodysplasia 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 metaphysis morphology
Very frequent (80-99%)HP:0000944
Abnormal morphology of the radius
Very frequent (80-99%)HP:0002818
Decreased body height
Very frequent (80-99%)HP:0004322
Flat nasal bridge
Very frequent (80-99%)HP:0005280
Frontal protuberance
Very frequent (80-99%)HP:0002007
Hypoplastic distal humeri
Very frequent (80-99%)HP:0005025
Increased length of philtrum
Very frequent (80-99%)HP:0000343
Low-set ears
Very frequent (80-99%)HP:0000369
Nostrils anteverted
Very frequent (80-99%)HP:0000463
Posteriorly angulated ears
Very frequent (80-99%)HP:0000358
Rhizomelic limb shortening
Very frequent (80-99%)HP:0008905
Ulnohumeral dislocation
Very frequent (80-99%)HP:0003042
Abnormality of the thighbone
Frequent (30-79%)HP:0002823
Cryptorchidism
Frequent (30-79%)HP:0000028
Hypoplastic mandible condyle
Frequent (30-79%)HP:0000347
Mesomelia
Frequent (30-79%)HP:0003027
Micromelia
Frequent (30-79%)HP:0002983
Abnormality of cardiovascular system morphology
Occasional (5-29%)HP:0030680
Craniosyostosis
Occasional (5-29%)HP:0001363
Dull intelligence
Occasional (5-29%)HP:0001249
Hernia
Occasional (5-29%)HP:0100790
Increased nuchal translucency
Occasional (5-29%)HP:0010880
Nasal hypoplasia
Occasional (5-29%)HP:0003196
Pterygia
Occasional (5-29%)HP:0001059
Anterolateral radial head dislocation
HP:0005050
Atria septal defect
HP:0001631
Axillary pterygium
HP:0001060
Blepharophimosis
HP:0000581
Dwarfism, short-limbed
HP:0008873
Flat facial shape
HP:0012368
Related Conditions
Quick Facts
- SNOMED CT
- 725166005
- UMLS CUI
- C1850318
- Fully Specified Name
- Autosomal recessive omodysplasia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.