Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal enchondral ossification
Very frequent (80-99%)HP:0003336
Absent/small lungs
Very frequent (80-99%)HP:0006703
Decreased projection of mandible
Very frequent (80-99%)HP:0000347
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
Increased length of philtrum
Very frequent (80-99%)HP:0000343
Increased size of skull
Very frequent (80-99%)HP:0000256
Lethal dwarfism identifiable at birth
Very frequent (80-99%)HP:0005716
Low chest circumference
Very frequent (80-99%)HP:0000774
Micromelia
Very frequent (80-99%)HP:0002983
Nostrils anteverted
Very frequent (80-99%)HP:0000463
Short neck
Very frequent (80-99%)HP:0000470
Short stature, severe
Very frequent (80-99%)HP:0003510
Short stature, severe disproportionate
Very frequent (80-99%)HP:0003498
Shorter than typical length between neck and abdomen
Very frequent (80-99%)HP:0010306
Small feet
Very frequent (80-99%)HP:0001773
Small nose
Very frequent (80-99%)HP:0003196
Thickened skin folds of neck
Very frequent (80-99%)HP:0000474
Femoral hernia
Frequent (30-79%)HP:0100541
Fetal foot inversion
Frequent (30-79%)HP:0001762
Increased amniotic fluid index
Frequent (30-79%)HP:0001561
Rib anomalies
Frequent (30-79%)HP:0000772
Umbilical hernia
Frequent (30-79%)HP:0001537
Abnormality of cardiovascular system morphology
Occasional (5-29%)HP:0030680
Cystic hygroma of the neck
Occasional (5-29%)HP:0000476
Abdominal swelling
HP:0003270
Absent or minimally ossified vertebral bodies
HP:0004599
Feet or buttocks of fetus positioned near opening of uterus
HP:0001623
Inguinal hernia
HP:0000023
Related Conditions
Quick Facts
- SNOMED CT
- 14870002
- UMLS CUI
- C0265274
- Fully Specified Name
- Achondrogenesis, type IB (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.