trichorhinophalangeal syndrome type I
Findings
No curated finding names trichorhinophalangeal syndrome type I yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal dominant malformation syndrome caused by mutations in TRPS1 characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.
Definition from the Mondo Disease Ontology (MONDO:0008596), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
37 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- BrachydactylyHPOHP:0001156
- 3 of 3 reported patients
- Bulbous noseHPOHP:0000414
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Long philtrumHPOHP:0000343
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Protruding earHPOHP:0000411
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Sparse scalp hairHPOHP:0002209
- 3 of 3 reported patients
Show the remaining 25
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Short distal phalanx of fingerHPOHP:0009882
- Very frequent (80% to 99% of cases)
- Short metacarpalHPOHP:0010049
- Very frequent (80% to 99% of cases)
- Short metatarsalHPOHP:0010743
- Very frequent (80% to 99% of cases)
- Shortening of all phalanges of fingersHPOHP:0011910
- Very frequent (80% to 99% of cases)
- Sparse eyebrowHPOHP:0045075
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TRPS1HGNC:12340
- Definitive · G2P · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
10 names
Resolves to: trichorhinophalangeal syndrome type I
- Also called
- Sugio-Kajii syndrometrichorhinophalangeal dysplasia (syndrome) types 1/3trichorhinophalangeal dysplasia type Itrichorhinophalangeal dysplasia types 1/3trichorhinophalangeal syndrome type 1trichorhinophalangeal syndrome, type 1trichorhinophalangeal syndrome, type ITRPS 1TRPS1type III trichorhinophalangeal syndrome