Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abdominal protuberance
Always present (100%)HP:0001538
Absence of stomach bubble on foetal sonography
Always present (100%)HP:0010963
Bell-shaped chest
Always present (100%)HP:0001591
Bending of the arm
Always present (100%)HP:0006488
Bowed lower limbs
Always present (100%)HP:0002979
Decreased mineralization of skull
Always present (100%)HP:0004331
Depressed nasal root/bridge
Always present (100%)HP:0005280
Fetal foot inversion
Always present (100%)HP:0001762
Flaring of rib cage
Always present (100%)HP:0000904
Hypoplastic sacrum
Always present (100%)HP:0004590
Hypotrophic bridge of nose
Always present (100%)HP:0005281
Increased nuchal translucency
Always present (100%)HP:0010880
Lingual protrusion
Always present (100%)HP:0010808
Low-set ears
Always present (100%)HP:0000369
Poorly developed lungs
Always present (100%)HP:0002089
Severe limb shortening
Always present (100%)HP:0200083
Short ribs
Always present (100%)HP:0000773
Short-trunked dwarfism
Always present (100%)HP:0003521
Tall shaped head
Always present (100%)HP:0000262
Abdominal swelling
Very frequent (80-99%)HP:0003270
Abnormal enchondral ossification
Very frequent (80-99%)HP:0003336
Absent/small lungs
Very frequent (80-99%)HP:0006703
Big calvaria
Very frequent (80-99%)HP:0000256
Flat facial shape
Very frequent (80-99%)HP:0012368
Frontal protuberance
Very frequent (80-99%)HP:0002007
Hydrops fetalis
Very frequent (80-99%)HP:0001789
Hypoplastic mandible
Very frequent (80-99%)HP:0000347
Increased length of philtrum
Very frequent (80-99%)HP:0000343
Lethal dwarfism identifiable at birth
Very frequent (80-99%)HP:0005716
Low chest circumference
Very frequent (80-99%)HP:0000774
Related Conditions
Quick Facts
- SNOMED CT
- 42725006
- UMLS CUI
- C0265273
- Fully Specified Name
- Achondrogenesis, type IA (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.