Overview
Mandibulofacial dysostosis with alopecia 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.
Hair loss
Always present (100%)HP:0001596
Hearing loss, conductive
Always present (100%)HP:0000405
Treacher Collins syndrome
Always present (100%)HP:0005321
Capuchin ears
Frequent (30-79%)HP:0000378
Cleft of palate
Frequent (30-79%)HP:0000175
Eclabium of lower lip
Frequent (30-79%)HP:0000232
Microtia
Frequent (30-79%)HP:0008551
Narrow external auditory meatus
Frequent (30-79%)HP:0000402
Thin eyelashes
Frequent (30-79%)HP:0000653
Bicuspid aortic valve
Occasional (5-29%)HP:0001647
Delayed primary teeth eruption
Occasional (5-29%)HP:0000680
Notched lower eyelid
Occasional (5-29%)HP:0000652
Posterior displacement of the tongue
Occasional (5-29%)HP:0000162
Preauricular sinus
Occasional (5-29%)HP:0004467
Skin tag on the posterior cheek
Occasional (5-29%)HP:0000384
Tooth size discrepancy
Occasional (5-29%)HP:0000678
Ureteral dilatation
Occasional (5-29%)HP:0000072
Broad flat nasal bridge
HP:0000431
Hypoplastic mandible
HP:0000347
Lockjaw
HP:0000211
Low-set ears
HP:0000369
Protruding ear
HP:0000411
Small upper jaw
HP:0000327
Unbalanced face
HP:0000324
Quick Facts
- SNOMED CT
- 1216943004
- UMLS CUI
- C4225349
- Fully Specified Name
- Mandibulofacial dysostosis with alopecia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 24
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.