Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Broad flat nasal bridge
Very frequent (80-99%)HP:0000431
Broad thumbs
Very frequent (80-99%)HP:0011304
Contractures of the hands
Very frequent (80-99%)HP:0009473
Decreased projection of mandible
Very frequent (80-99%)HP:0000347
Down-slanting palpebral fissure
Very frequent (80-99%)HP:0000494
Funny looking face
Very frequent (80-99%)HP:0001999
Hypoacusis
Very frequent (80-99%)HP:0000365
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Long fingers
Very frequent (80-99%)HP:0100807
Phalangeal hypoplasia
Very frequent (80-99%)HP:0009803
Prominent supraorbital margins
Very frequent (80-99%)HP:0000336
Scoliosis
Very frequent (80-99%)HP:0002650
Skeletal dysplasia
Very frequent (80-99%)HP:0002652
Cardiac anomaly
Frequent (30-79%)HP:0001627
Distal phalangeal hypoplasia
Frequent (30-79%)HP:0009882
Fixed flexion at the elbow joint
Frequent (30-79%)HP:0002987
Fused neck
Frequent (30-79%)HP:0002949
Hearing loss, conductive
Frequent (30-79%)HP:0000405
Hydronephrosis
Frequent (30-79%)HP:0000126
Hyperostosis of skull base
Frequent (30-79%)HP:0002694
Hyperplasia of cheeks
Frequent (30-79%)HP:0000293
Interphalangeal joint flexion contractures
Frequent (30-79%)HP:0001220
Keloids
Frequent (30-79%)HP:0010562
Limitation of movement at ankles
Frequent (30-79%)HP:0010505
Limited elbow movement
Frequent (30-79%)HP:0002996
Limited knee movement
Frequent (30-79%)HP:0010501
Limited wrist movement
Frequent (30-79%)HP:0006248
Metacarpal/phalangeal joint contractures
Frequent (30-79%)HP:0006070
Pes valgus
Frequent (30-79%)HP:0008081
Proximal interphalangeal finger joint contractures
Frequent (30-79%)HP:0100490
Quick Facts
- SNOMED CT
- 62803002
- UMLS CUI
- C0265293
- Fully Specified Name
- Frontometaphyseal 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.