Overview
Metaphyseal chondrodysplasia, Jansen type 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.
Delayed eruption of teeth
Always present (100%)HP:0000684
Eyelid ptosis
Always present (100%)HP:0000508
Increased intercanthal distance
Always present (100%)HP:0000506
Low-set ears
Always present (100%)HP:0000369
Sagittal suture synostosis
Always present (100%)HP:0004442
Broad flat nasal bridge
Very frequent (80-99%)HP:0000431
Hypertrophy of supraorbital margins
Very frequent (80-99%)HP:0000336
Sloping forehead
Very frequent (80-99%)HP:0000340
Dwarfism, short-limbed
Frequent (30-79%)HP:0008873
Elevated urinary hydroxyproline
Frequent (30-79%)HP:0003080
Hearing loss, conductive
Frequent (30-79%)HP:0000405
High arched palate
Frequent (30-79%)HP:0000218
HyperCalcification of skull base
Frequent (30-79%)HP:0002694
Hypophosphataemia
Frequent (30-79%)HP:0002148
Increased distance between eyes
Frequent (30-79%)HP:0000316
Increased size of skull
Frequent (30-79%)HP:0000256
Misalignment of upper and lower dental arches
Frequent (30-79%)HP:0000689
Obstructive sleep apnea
Frequent (30-79%)HP:0002870
Osteopenia
Frequent (30-79%)HP:0000938
Retrognathia
Frequent (30-79%)HP:0000278
Thin cortices
Frequent (30-79%)HP:0002753
Waddling gait
Frequent (30-79%)HP:0002515
Bilateral choanal atresia/stenosis
Occasional (5-29%)HP:0200138
Chubby cheeks
Occasional (5-29%)HP:0000293
Down-slanting palpebral fissure
Occasional (5-29%)HP:0000494
Feeding difficulties in infancy
Occasional (5-29%)HP:0008872
Increased calcium level in kidney
Occasional (5-29%)HP:0000121
Joint contracture
Occasional (5-29%)HP:0034392
open cranial sutures
Occasional (5-29%)HP:0010537
Respiratory distress, neonatal
Occasional (5-29%)HP:0002643
Quick Facts
- SNOMED CT
- 24629003
- UMLS CUI
- C0265295
- Fully Specified Name
- Metaphyseal chondrodysplasia, Jansen type (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.