Camptodactyly, tall stature, and hearing loss syndrome
| Camptodactyly-tall stature-hearing loss syndrome | |
|---|---|
| Other names | CATSHL syndrome |
 | |
| Specialty | Medical genetics |
| Symptoms | camptodactyly, hearing loss and tall height |
| Complications | hearing impairment |
| Usual onset | birth |
| Duration | life-long |
| Causes | Genetic mutation |
| Diagnostic method | physical examination, genetic testing |
| Prevention | none |
| Prognosis | good |
| Frequency | very rare, only 30 cases have been documented in medical literature |
Camptodactyly, tall stature, and hearing loss syndrome, also known as CATSHL syndrome,[1] is a rare genetic disorder which consists of camptodactyly, tall height, scoliosis, and hearing loss. Occasionally, developmental delay and intellectual disabilities are reported. About 30 (live) people with the disorder have been recorded in medical literature to date (May 2022); 27 people from a four-generation Utah family and 2 brothers from consanguineous Egyptian parents.[2][3] This disorder is caused by autosomal dominant (rarely recessive) missense mutations in the FGFR3 gene.[4][5][6][7][8][9]
Symptoms
[edit]The main symptoms of this disease are:[10][7]
- Lower limb joint abnormality
- Camptodactyly
- Hearing loss
- Scoliosis
- Tall stature
Occasionally:[3]
- Intellectual disability and developmental delay
Cause
[edit]CASTHL syndrome is caused by a dominant loss-of-function missense mutation of FGFR3 gene.[3]
It is known that FGFR3 negatively regulates bone growth through negative regulation of endochondral ossification mechanism.[11] In this disease this mechanism is disrupted.[12]
Diagnosis
[edit]CATSHL syndrome diagnosis can be suspected by phenotype, subsequently diagnosis can be confirmed by genetic testing.[13]
Treatment
[edit]This disease doesn’t have a cure, although symptomatic management is available.[14]
Prognosis
[edit]Prognosis is good, because death cases because of that disease hadn’t been identified.[3][5]
History
[edit]The mutation in mice that causes CATSHL-like symptoms was described by Colvin et al in 1996.[12] First human cases have been reported by Toydemir et al in 2006 in a large Utah family.[5]
Prevalence
[edit]The frequency of that disease is unknown, although 30 cases have been recorded.[15]
References
[edit]- ^ "Camptodactyly, tall stature, and hearing loss syndrome". NORD (National Organization for Rare Disorders). Retrieved 2022-05-15.
- ^ "OMIM Entry - # 610474 - Camptodactyly, Tall Stature, and Hearing Loss Syndrome; CATSHLS". omim.org. Retrieved 2022-05-15.
- ^ a b c d Makrythanasis, Periklis; Temtamy, Samia; Aglan, Mona S.; Otaify, Ghada A.; Hamamy, Hanan; Antonarakis, Stylianos E. (August 2014). "A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly". Human Mutation. 35 (8): 959–963. doi:10.1002/humu.22597. ISSN 1098-1004. PMID 24864036. S2CID 22570252.
- ^ "Camptodactyly, tall stature, and hearing loss syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-15.
- ^ a b c Toydemir, Reha M.; Brassington, Anna E.; Bayrak-Toydemir, Pinar; Krakowiak, Patrycja A.; Jorde, Lynn B.; Whitby, Frank G.; Longo, Nicola; Viskochil, David H.; Carey, John C.; Bamshad, Michael J. (November 2006). "A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome". American Journal of Human Genetics. 79 (5): 935–941. doi:10.1086/508433. ISSN 0002-9297. PMC 1698566. PMID 17033969.
- ^ "Kegg Disease: CATSHL syndrome". www.genome.jp. Retrieved 2022-05-15.
- ^ a b Toydemir, Reha M.; Brassington, Anna E.; Bayrak-Toydemir, Pınar; Krakowiak, Patrycja A.; Jorde, Lynn B.; Whitby, Frank G.; Longo, Nicola; Viskochil, David H.; Carey, John C.; Bamshad, Michael J. (2006-11-01). "A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome". The American Journal of Human Genetics. 79 (5): 935–941. doi:10.1086/508433. ISSN 0002-9297. PMC 1698566. PMID 17033969.
- ^ "Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome". MalaCards. 2024-08-07. Retrieved 2024-08-11.
- ^ "camptodactyly-tall stature-scoliosis-hearing loss syndrome Disease Ontology Browser - DOID:0111160". www.informatics.jax.org. Retrieved 2022-05-15.
- ^ "Orphanet: Clinical signs and symptoms". www.orpha.net. Retrieved 2025-02-23.
- ^ Deng, Chuxia; Wynshaw-Boris, Anthony; Zhou, Fen; Kuo, Ann; Leder, Philip (March 1996). "Fibroblast Growth Factor Receptor 3 Is a Negative Regulator of Bone Growth". Cell. 84 (6): 911–921. doi:10.1016/S0092-8674(00)81069-7. ISSN 0092-8674. Archived from the original on 2022-03-25.
- ^ a b Colvin, Jennifer S.; Bohne, Barbara A.; Harding, Gary W.; McEwen, Donald G.; Ornitz, David M. (April 1996). "Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3". Nature Genetics. 12 (4): 390–397. doi:10.1038/ng0496-390. ISSN 1546-1718.
- ^ Escobar, Luis F.; Tucker, Megan; Bamshad, Michael (2016). "A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome". American Journal of Medical Genetics Part A. 170 (7): 1908–1911. doi:10.1002/ajmg.a.37676. ISSN 1552-4833.
- ^ Kim, Hwa Young; Ko, Jung Min (2022-06-30). "Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood". Annals of Pediatric Endocrinology & Metabolism. 27 (2): 90–97. doi:10.6065/apem.2244114.057. ISSN 2287-1012. PMC 9260370. PMID 35793999.
- ^ "Orphanet: Camptodactyly-tall stature-scoliosis-hearing loss syndrome". www.orpha.net. Retrieved 2025-02-23.
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