Overview
Thanatophoric dysplasia, type 1 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.
1-minute APGAR score of 1
Always present (100%)HP:0030928
5-minute APGAR score of 1
Always present (100%)HP:0030921
Abdominal protuberance
Always present (100%)HP:0001538
Champagne cork sign
Always present (100%)HP:0034226
Dwarfism, short-limbed
Always present (100%)HP:0008873
Feet or buttocks of fetus positioned near opening of uterus
Always present (100%)HP:0001623
Hypotrophic midface
Always present (100%)HP:0011800
Poorly developed lungs
Always present (100%)HP:0002089
Protruding forehead
Always present (100%)HP:0011220
Respiratory distress, neonatal
Always present (100%)HP:0002643
Short neck
Always present (100%)HP:0000470
shortened long tubular bones
Always present (100%)HP:0003026
Small pelvis
Always present (100%)HP:0008839
Thoracic hypoplasia
Always present (100%)HP:0005257
Abnormal metaphysis morphology
Very frequent (80-99%)HP:0000944
Abnormal sacroiliac joint morphology
Very frequent (80-99%)HP:0100781
Big calvaria
Very frequent (80-99%)HP:0000256
Bowed femura
Very frequent (80-99%)HP:0002980
Bowed long bones
Very frequent (80-99%)HP:0006487
Brachydactyly
Very frequent (80-99%)HP:0001156
Concave bridge of nose
Very frequent (80-99%)HP:0005280
Flat facial shape
Very frequent (80-99%)HP:0012368
Flattened vertebral bodies
Very frequent (80-99%)HP:0000926
Intellectual disability, profound
Very frequent (80-99%)HP:0002187
Lethal micromelic dwarfism
Very frequent (80-99%)HP:0008909
Loose redundant skin
Very frequent (80-99%)HP:0001582
Low chest circumference
Very frequent (80-99%)HP:0000774
Micromelia
Very frequent (80-99%)HP:0002983
Muscular hypotonia
Very frequent (80-99%)HP:0001252
Respiratory function loss
Very frequent (80-99%)HP:0002093
Related Conditions
Quick Facts
- SNOMED CT
- 389157002
- UMLS CUI
- C1868678
- Fully Specified Name
- Thanatophoric dysplasia, type 1 (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.