Overview
Pyknodysostosis 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.
Acro-osteolysis of distal phalanges
Very frequent (80-99%)HP:0009839
Brachydactyly
Very frequent (80-99%)HP:0001156
Decreased serum insulin-like growth factor 1
Very frequent (80-99%)HP:0030353
Dwarfism, short-limbed
Very frequent (80-99%)HP:0008873
Front fontanelle stays open
Very frequent (80-99%)HP:0004474
Increased bone mineral density
Very frequent (80-99%)HP:0011001
Mastoid processes poorly pneumatized
Very frequent (80-99%)HP:0005906
Obtuse angle of mandible
Very frequent (80-99%)HP:0005446
Anterior bulging of the globe of eye
Frequent (30-79%)HP:0000520
Chronic pain
Frequent (30-79%)HP:0012532
Decreased response to growth hormone stimulation test
Frequent (30-79%)HP:0000824
Delayed closure of the fontanelles
Frequent (30-79%)HP:0000270
Dental problems
Frequent (30-79%)HP:0000164
Disproportionately small hands
Frequent (30-79%)HP:0200055
Flat midface
Frequent (30-79%)HP:0011800
Generalized osteosclerosis
Frequent (30-79%)HP:0005789
Grey sclerae
Frequent (30-79%)HP:0000592
Hooked nose
Frequent (30-79%)HP:0000444
Hypoplastic mandible condyle
Frequent (30-79%)HP:0000347
Hypotrophic maxilla
Frequent (30-79%)HP:0000327
Increased susceptibility to fractures
Frequent (30-79%)HP:0002659
Intrauterine growth retardation, IUGR
Frequent (30-79%)HP:0001511
Large nose
Frequent (30-79%)HP:0000448
Mild conductive hearing impairment
Frequent (30-79%)HP:0008598
Nail disease
Frequent (30-79%)HP:0001597
Obstructive sleep apnea
Frequent (30-79%)HP:0002870
Short finger
Frequent (30-79%)HP:0009381
Small feet
Frequent (30-79%)HP:0001773
Abnormal clavicles
Occasional (5-29%)HP:0000889
Acromelia
Occasional (5-29%)HP:0010884
Quick Facts
- SNOMED CT
- 89647000
- UMLS CUI
- C0238402
- Fully Specified Name
- Pyknodysostosis (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.