Overview
Focal facial dermal dysplasia type I 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.
Aplasia cutis congenita
Very frequent (80-99%)HP:0001057
Aplasia of eyelashes
Very frequent (80-99%)HP:0000561
Distichiasis
Very frequent (80-99%)HP:0009743
Hypotrichosis
Very frequent (80-99%)HP:0008070
Low anterior hairline
Very frequent (80-99%)HP:0000294
Malformation of face
Very frequent (80-99%)HP:0001999
Patchy hyperpigmentation
Very frequent (80-99%)HP:0005585
Patchy hypopigmentation
Very frequent (80-99%)HP:0005590
Skin dimples
Very frequent (80-99%)HP:0010781
Thin, atrophic scars
Very frequent (80-99%)HP:0001075
Vertical forehead creases
Very frequent (80-99%)HP:0011221
Downturned corners of mouth
Frequent (30-79%)HP:0002714
Full upper lip
Frequent (30-79%)HP:0000215
Laterally sparse eyebrows
Frequent (30-79%)HP:0005338
Nasal tip, depressed
Frequent (30-79%)HP:0000437
Potato nose
Frequent (30-79%)HP:0000414
Small pointed chin
Frequent (30-79%)HP:0000307
Low-set ears
HP:0000369
Temporal skin defect
HP:0011336
Quick Facts
- SNOMED CT
- 789157007
- UMLS CUI
- C5235196
- Fully Specified Name
- Focal facial dermal dysplasia type I (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 19
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.