Trichorhinophalangeal syndrome type 1
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare multiple congenital anomalies syndrome characterized by short stature, sparse and depigmented scalp hair, typical facial characteristics (broad eyebrows, especially the medial portion, broad nasal ridge and tip, underdeveloped nasal alae, long philtrum, thin upper lip vermilion, and protruding ears), and limb anomalies (brachydactyly, short metacarpals and metatarsals, cone-shaped phalangeal epiphyses, dystrophic nails, and hip dysplasia).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Trichorhinophalangeal syndrome type 1 | |
| fr | Syndrome trichorhinophalangien type 1 | |
| de | Tricho-rhino-phalangeales Syndrom Typ 1 | TRPS Typ 1 |
| es | Síndrome trico-rino-falángico tipo 1 | |
| it | Sindrome trico-rino-falangea tipo 1 | |
| nl | Trichorinofalangeaal syndroom type 1 | |
| pt | Síndrome trico-rino-falangica tipo 1 | |
| pl | Zespół włosowo-nosowo-paliczkowy typu 1 | |
| cs | Trichorhinofalangeální syndrom, typ 1 a 3 | |
| uk | Трихорино-фаланговий синдром, тип 1 | |
| zh | 毛发鼻指(趾)综合征1型和3型 | |
| tr | Trikorinofalangeal sendromu tip 1 ve 3 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 190350 | BTNT | validated | |
| OMIM | 190351 | BTNT | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0019176 | E | validated | |
| UMLS | C5816692 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:324764Trichorhinophalangeal syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TRPS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:12340 | ENSG00000104447 | 604386 | 8q23.3 | transcriptional repressor GATA binding 1 |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 250 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
29 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000414 | Bulbous nose | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0010579 | Cone-shaped epiphysis | |
| HP:0002007 | Frontal bossing | |
| HP:0000343 | Long philtrum | |
| HP:0011341 | Long upper lip | |
| HP:0000400 | Macrotia | |
| HP:0000347 | Micrognathia | |
| HP:0000411 | Protruding ear | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0010049 | Short metacarpal | |
| HP:0010743 | Short metatarsal | |
| HP:0004322 | Short stature | |
| HP:0011910 | Shortening of all phalanges of fingers | |
| HP:0045075 | Sparse eyebrow | |
| HP:0000653 | Sparse eyelashes | |
| HP:0008070 | Sparse hair | |
| HP:0000325 | Triangular face | |
| Frequent (79-30%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0005743 | Avascular necrosis of the capital femoral epiphysis | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0001808 | Fragile nails | |
| HP:0000218 | High palate | |
| HP:0003307 | Hyperlordosis | |
| HP:0001252 | Hypotonia | |
| HP:0001820 | Leukonychia | |
| HP:0000768 | Pectus carinatum | |
| HP:0002650 | Scoliosis | |
| HP:0011069 | Supernumerary tooth | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 25628322[PMID]_7790499[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/77258
- This record as JSON: /data/d/77258.json