Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal metaphysis morphology
Very frequent (80-99%)HP:0000944
Big calvaria
Very frequent (80-99%)HP:0000256
Concave bridge of nose
Very frequent (80-99%)HP:0005280
Dwarfism, short-limbed
Very frequent (80-99%)HP:0008873
Flat facial shape
Very frequent (80-99%)HP:0012368
Flattened vertebral bodies
Very frequent (80-99%)HP:0000926
Increased nuchal translucency
Very frequent (80-99%)HP:0010880
IQ less than 20
Very frequent (80-99%)HP:0002187
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
Poorly developed lungs
Very frequent (80-99%)HP:0002089
Shorter than typical length between neck and abdomen
Very frequent (80-99%)HP:0010306
Skeletal dysplasia
Very frequent (80-99%)HP:0002652
Brachydactyly
Frequent (30-79%)HP:0001156
Deafness
Frequent (30-79%)HP:0000365
Decreased projection of midface
Frequent (30-79%)HP:0011800
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Frontal protuberance
Frequent (30-79%)HP:0002007
Gray matter heterotopias
Frequent (30-79%)HP:0002282
Intrauterine growth retardation, IUGR
Frequent (30-79%)HP:0001511
Protruding eyes
Frequent (30-79%)HP:0000520
Abnormal formation of the hip
Occasional (5-29%)HP:0001385
Abnormal sacroiliac joint morphology
Occasional (5-29%)HP:0100781
Abnormality of cardiovascular system morphology
Occasional (5-29%)HP:0030680
Acanthosis nigricans
Occasional (5-29%)HP:0000956
Atria septal defect
Occasional (5-29%)HP:0001631
Cloverleaf skull shape
Occasional (5-29%)HP:0002676
Down-slanting palpebral fissure
Occasional (5-29%)HP:0000494
Quick Facts
- SNOMED CT
- 29352008
- UMLS CUI
- C0039743
- Fully Specified Name
- Thanatophoric dysplasia (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.