Camptodactyly-tall stature-scoliosis-hearing loss syndrome
Synonyms: CATSHL syndrome · Camptodactyly-tall stature-scoliosis-deafness syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Camptodactyly-tall stature-scoliosis-hearing loss syndrome | CATSHL syndrome · Camptodactyly-tall stature-scoliosis-deafness syndrome |
| fr | Syndrome de camptodactylie-grande taille-scoliose-déficience auditive | Syndrome CATSHL |
| de | Kamptodaktylie-Hochwuchs-Skoliose-Hörverlust-Syndrom | CATSHL-Syndrom |
| es | Síndrome de camptodactilia-talla alta-escoliosis-hipoacusia | Síndrome CATSHL · Síndrome de camptodactilia-talla alta-escoliosis-sordera |
| it | Camptodattilia - bassa statura - scoliosi - perdita dell'udito | Sindrome CATSHL |
| nl | Camptodactylie - grote gestalte - scoliose - gehoorverlies-syndroom | CATSHL-syndroom · Camptodactylie - grote gestalte - scoliose - doofheid-syndroom |
| pt | Síndrome de camptodactilia-estatura elevada-escoliose-perda de audição | |
| pl | Kamptodaktylia - wysoki wzrost - skolioza - utrata słuchu | Zespół CATSHL |
| cs | Syndrom zahrnující kamptodaktylii, velký vzrůst, skoliózu a ztrátu sluchu | CATSHL syndrom |
| uk | Синдром камптодактилія-високорослості-сколіозу-втрати слуху | Синдром камптодактилії - високого зросту-сколіозу-глухоти · Синдром CATSHL |
| zh | 先天性指屈曲-身材高大-脊椎侧凸-听力丧失综合征 | 先天性指屈曲-身材高大-脊椎侧凸-耳聋综合征 |
| tr | Kamptodaktili-uzun boy-skolyoz-işitme kaybı sendromu | CATSHL sendromu · Camptodactyly-long boy-skolyoz-sağırlık sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610474 | E | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0012504 | E | validated | |
| MeSH | C537975 | E | validated | |
| UMLS | C1864852 | E | validated | |
| GARD | 10012 | 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 (2):
- ORPHA:93454Dysostosis with predominant vertebral and costal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:93420FGFR3-related chondrodysplasia
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FGFR3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3690 | ENSG00000068078 | 134934 | 4p16.3 | fibroblast growth factor receptor 3 | 17033969[PMID]_24864036[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100491 | Abnormality of lower limb joint | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000365 | Hearing impairment | |
| HP:0002650 | Scoliosis | |
Run the differential on the 4 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85164
- This record as JSON: /data/d/85164.json