Overview
By MedlinePlus, National Library of Medicine
NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases Courtesy of the National Library of Medicine. Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abdominal protuberance
Always present (100%)HP:0001538
Delayed tibial epiphyseal ossification
Always present (100%)HP:6000867
Frontal protuberance
Always present (100%)HP:0002007
Increased length of philtrum
Always present (100%)HP:0000343
Increased size of palpebral fissures
Always present (100%)HP:0001090
Retromicrognathia
Always present (100%)HP:0000308
Wide skull shape
Always present (100%)HP:0000248
Abnormal bone maturation
Very frequent (80-99%)HP:0011849
shortened long tubular bones
Very frequent (80-99%)HP:0003026
Abnormal eye
Frequent (30-79%)HP:0000478
Abnormal skeletal development
Frequent (30-79%)HP:0002652
Absent pubic ossification in infancy
Frequent (30-79%)HP:0008788
Absent vertebral body mineralization
Frequent (30-79%)HP:0004605
Decreased body height
Frequent (30-79%)HP:0004322
Delayed ossification proximal femoral epiphyses
Frequent (30-79%)HP:0008828
Delayed vertebral ossification
Frequent (30-79%)HP:0031096
Flat midface
Frequent (30-79%)HP:0011800
Low chest circumference
Frequent (30-79%)HP:0000774
Micromelia
Frequent (30-79%)HP:0002983
Pierre-Robin sequence
Frequent (30-79%)HP:0000201
Poorly developed lungs
Frequent (30-79%)HP:0002089
Short ribs
Frequent (30-79%)HP:0000773
Small wings of the pelvic girdle
Frequent (30-79%)HP:0000946
Soft tissue swelling
Frequent (30-79%)HP:0000969
Unossified sacrum
Frequent (30-79%)HP:0030290
Abnormal vitreous humor morphology
Occasional (5-29%)HP:0004327
Cardiorespiratory arrest
Occasional (5-29%)HP:0006543
Cataract
Occasional (5-29%)HP:0000518
Deafness
Occasional (5-29%)HP:0000365
Near sighted
Occasional (5-29%)HP:0000545
Related Conditions
Quick Facts
- SNOMED CT
- 254061001
- UMLS CUI
- C0220685
- Fully Specified Name
- Achondrogenesis, type II (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.