Overview
Odontotrichomelic syndrome 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.
Boxer's nose deformity
Always present (100%)HP:0011120
Decreased hair growth
Always present (100%)HP:0008070
Eruption failure
Always present (100%)HP:0000706
Eyelid thickening
Always present (100%)HP:0030939
Full lower lip
Always present (100%)HP:0000179
Hyperplasia of supraorbital ridge
Always present (100%)HP:0000336
Late closure of soft spot on the skull
Always present (100%)HP:0001476
Megalocornea
Always present (100%)HP:0000485
Prominent lips
Always present (100%)HP:0012471
Shallow eye sockets
Always present (100%)HP:0000586
Short and narrow face
Always present (100%)HP:0000274
Short stature, severe
Always present (100%)HP:0003510
Small nose
Always present (100%)HP:0003196
Squint
Always present (100%)HP:0000486
Thinning scalp hair
Always present (100%)HP:0002209
Decreased body height
Very frequent (80-99%)HP:0004322
Delayed eruption of teeth
Very frequent (80-99%)HP:0000684
Early balding
Very frequent (80-99%)HP:0002234
Eclabium of lower lip
Very frequent (80-99%)HP:0000232
Flat nasal bridge
Very frequent (80-99%)HP:0005280
Frontal protuberance
Very frequent (80-99%)HP:0002007
Hair loss
Very frequent (80-99%)HP:0001596
High forehead
Very frequent (80-99%)HP:0000348
Hypoplastic mandible condyle
Very frequent (80-99%)HP:0000347
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Increased length of philtrum
Very frequent (80-99%)HP:0000343
Increased width of the forehead
Very frequent (80-99%)HP:0000337
Loose-jointedness
Very frequent (80-99%)HP:0001382
Low-set ears
Very frequent (80-99%)HP:0000369
Nostrils anteverted
Very frequent (80-99%)HP:0000463
Related Conditions
Recessive hereditary disorder (autosomal)(parent)
Hereditary disorder of the integument(parent)
Ectodermal dysplasia with hair-tooth-nail-sweating defect(parent)
Multiple malformation syndrome with limb defect as major feature(parent)
Genetic disorder of nail(parent)
Developmental hereditary disorder(parent)
Hereditary disorder of tooth(parent)
Quick Facts
- SNOMED CT
- 239028001
- UMLS CUI
- C2930960
- Fully Specified Name
- Odontotrichomelic syndrome (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.