ORPHA:502
Trichorhinophalangeal syndrome type 2
Synonyms: Langer-Giedion syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare multiple congenital anomalies syndrome characterized by intellectual disability, 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), limb anomalies (brachydactyly, short metacarpals and metatarsals, cone-shaped phalangeal epiphyses, dystrophic nails, and hip dysplasia) and multiple cartilaginous exostoses.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Trichorhinophalangeal syndrome type 2 | Langer-Giedion syndrome |
| fr | Syndrome trichorhinophalangien type 2 | Syndrome de Langer-Giedion · Syndrome tricho-rhino-phalangien type 2 |
| de | Tricho-rhino-phalangeales-Syndrom Typ 2 | Langer-Giedion-Syndrom · TRPS Typ 2 |
| es | Síndrome trico-rino-falángico tipo 2 | Síndrome de Langer-Giedion |
| it | Sindrome trico-rino-falangea tipo 2 | Sindrome di Langer-Giedion · Sindrome trico-rino-falangea, tipo 2 |
| nl | Trichorinofalangeaal syndroom type 2 | Syndroom van Langer-Giedion |
| pt | Síndrome trico-rino-falângica tipo 2 | Síndrome Langer-Giedion |
| pl | Zespół Langera i Giediona | Delecja 8q24.1 · Monosomia 8q24.1 · Zespół włosowo-nosowo-palcowy typu 2 |
| cs | Langerův-Giedionův syndrom | Delece 8q24.1 · Monozomie 8q24.1 · Trichorhinofalangeální syndrom, typ 2 · Langer-Giedionův syndrom |
| uk | Трихоринофаланговий синдром, тип 2 | Синдром Лангера-Гедіона |
| zh | 毛发-鼻-指(趾)综合征2型 | Langer-Giedion综合征 |
| tr | Trikhorinofalangeal sendrom tip 2 | Delesyon 8q24.1 · Monozomi 8q24.1 · Langer-Giedion sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 150230 | E | validated | |
| OMIM | 611376 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD24.80 | E | specific | validated |
| MONDO | 0007874 | E | validated | |
| MeSH | D015826 | E | validated | |
| UMLS | C0023003 | E | validated | |
| GARD | 7801 | E | validated | |
| MedDRA | 10050638 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:262065Partial deletion of the long arm of chromosome 8 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:324764Trichorhinophalangeal syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare bone diseases
No children.
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EXT1 | Role in the phenotype of | Assessed | HGNC:3512 | ENSG00000182197 | 608177 | 8q24.11 | exostosin glycosyltransferase 1 | |
| RAD21 | Role in the phenotype of | Assessed | HGNC:9811 | ENSG00000164754 | 606462 | 8q24.11 | RAD21 cohesin complex component | 25792522[PMID] |
| TRPS1 | Role in the phenotype of | Assessed | HGNC:12340 | ENSG00000104447 | 604386 | 8q23.3 | transcriptional repressor GATA binding 1 |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26269715[PMID] |
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | 26269715[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
38 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002653 | Bone pain | |
| HP:0000414 | Bulbous nose | |
| HP:0010230 | Cone-shaped epiphyses of the phalanges of the hand | |
| HP:0002002 | Deep philtrum | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0100777 | Exostoses | |
| HP:0000343 | Long philtrum | |
| HP:0005039 | Multiple long-bone exostoses | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000411 | Protruding ear | |
| HP:0004322 | Short stature | |
| HP:0002209 | Sparse scalp hair | |
| HP:0000219 | Thin upper lip vermilion | |
| Frequent (79-30%) | ||
| HP:0009118 | Aplasia/Hypoplasia of the mandible | |
| HP:0001249 | Intellectual disability | |
| HP:0001373 | Joint dislocation | |
| HP:0001382 | Joint hypermobility | |
| HP:0001582 | Redundant skin | |
| HP:0000574 | Thick eyebrow | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000174 | Abnormal palate morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0005743 | Avascular necrosis of the capital femoral epiphysis | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0001156 | Brachydactyly | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0002857 | Genu valgum | |
| HP:0001510 | Growth delay | |
| HP:0001385 | Hip dysplasia | |
| HP:0001252 | Hypotonia | |
| HP:0000252 | Microcephaly | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0011069 | Supernumerary tooth | |
| HP:0001883 | Talipes | |
| HP:0009928 | Thick nasal alae | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000076 | Vesicoureteral reflux | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 12 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/502
- This record as JSON: /data/d/502.json