Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal metaphysis morphology
Very frequent (80-99%)HP:0000944
Broad flat nasal bridge
Very frequent (80-99%)HP:0000431
Depressed nasal root/bridge
Very frequent (80-99%)HP:0005280
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Marble bone disease
Very frequent (80-99%)HP:0011002
Thick craniofacial bones
Very frequent (80-99%)HP:0004493
Increased intercanthal distance
Frequent (30-79%)HP:0000506
Skeletal dysplasia
Frequent (30-79%)HP:0002652
Abnormality of the cranial nerves
Occasional (5-29%)HP:0001291
Facial muscle weakness of muscles innervated by CN VII
Occasional (5-29%)HP:0010628
Hearing loss, conductive
Occasional (5-29%)HP:0000405
Poor vision
Occasional (5-29%)HP:0000505
Sensorineural deafness
Occasional (5-29%)HP:0000407
Aplasia of paranasal sinuses
HP:0002689
Broad ribs
HP:0000885
Decreased body height
HP:0004322
Decreased width of tooth
HP:0000691
Dental crowding
HP:0000678
Down-slanting palpebral fissure
HP:0000494
Elevated alkaline phosphatase
HP:0003155
Enlarged brain
HP:0001355
Extra bones within cranial sutures
HP:0002645
Genu valga
HP:0002857
Genua vara
HP:0002970
High arched palate
HP:0000218
HyperCalcification of skull base
HP:0002694
Hypertrophy of mandible
HP:0000303
Large eyeballs
HP:0001090
Large head
HP:0000256
Low-set ears
HP:0000369
Quick Facts
- SNOMED CT
- 36601008
- UMLS CUI
- C0265292
- Fully Specified Name
- Craniometaphyseal 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.