Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Brachydactyly
Always present (100%)HP:0001156
Decreased body height
Always present (100%)HP:0004322
Decreased volume of upper lip
Always present (100%)HP:0000219
Increased length of philtrum
Always present (100%)HP:0000343
Potato nose
Always present (100%)HP:0000414
Protruding ear
Always present (100%)HP:0000411
Thinning scalp hair
Always present (100%)HP:0002209
Curvature of digit
Frequent (30-79%)HP:0030084
Abnormal blood phosphate concentration
Excluded (<1%)HP:0100529
Abnormal circulating calcium concentration
Excluded (<1%)HP:0004363
Abnormality of alkaline phosphatase level
Excluded (<1%)HP:0004379
Accelerated bone age after puberty
HP:0002805
Angle class 2 malocclusion
HP:0000689
Arthritic pain
HP:0002829
Cobb angle greater than ten degrees
HP:0002650
Concave nail
HP:0001598
Cone-shaped end part of the middle hand bones
HP:0010259
Cone-shaped epiphyses of the proximal phalanges of the hand
HP:0010270
Coxa magna
HP:0003279
Delayed eruption of teeth
HP:0000684
Dental cavities
HP:0000670
Dull intelligence
Excluded (<1%)HP:0001249
Fallen arches
HP:0001763
Fine hair
HP:0002213
Flat capital femoral epiphyses
HP:0003370
Generalised decreased muscle tone
HP:0001290
Horizontal chin skin cleft
HP:0011823
Hypoplastic mandible
HP:0000347
Hypotonia, early
HP:0008947
Ivory epiphyses of the distal phalanges of the hand
HP:0010252
Quick Facts
- SNOMED CT
- 254091006
- UMLS CUI
- C0432233
- Fully Specified Name
- Trichorhinophalangeal dysplasia type I (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.