Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal metaphysis morphology
Very frequent (80-99%)HP:0000944
Abnormal shape of shaft of long bone
Very frequent (80-99%)HP:0000940
Abnormal vertebral bodies
Very frequent (80-99%)HP:0003312
Anterior bulging of the globe of eye
Very frequent (80-99%)HP:0000520
Bell-shaped chest
Very frequent (80-99%)HP:0001591
Brachydactyly
Very frequent (80-99%)HP:0001156
Broad ribs
Very frequent (80-99%)HP:0000885
Decreased body height
Very frequent (80-99%)HP:0004322
Low chest circumference
Very frequent (80-99%)HP:0000774
Rib anomalies
Very frequent (80-99%)HP:0000772
Round facies
Very frequent (80-99%)HP:0000311
Short neck
Very frequent (80-99%)HP:0000470
Short ribs
Very frequent (80-99%)HP:0000773
Wider-than-typical soft spot of skull
Very frequent (80-99%)HP:0000260
Cleft of palate
Frequent (30-79%)HP:0000175
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
Flat nasal bridge
Frequent (30-79%)HP:0005280
Hearing abnormality
Frequent (30-79%)HP:0000364
Low-set ears
Frequent (30-79%)HP:0000369
Narrow mouth
Frequent (30-79%)HP:0000160
Nostrils anteverted
Frequent (30-79%)HP:0000463
Respiratory function loss
Frequent (30-79%)HP:0002093
Scapular hypoplasia
Frequent (30-79%)HP:0000882
Small fingernail
Frequent (30-79%)HP:0001804
Flattening of cranial vault
Occasional (5-29%)HP:0001357
Increased distance between eyes
Occasional (5-29%)HP:0000316
Micromelia
Occasional (5-29%)HP:0002983
Omphalocoele
Occasional (5-29%)HP:0001539
Proximal interphalangeal finger joint contractures
Occasional (5-29%)HP:0100490
Quick Facts
- SNOMED CT
- 17144009
- UMLS CUI
- C0265282
- Fully Specified Name
- Fibrochondrogenesis (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 29
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.