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 29 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 missense mutations in the FGFR3 gene.[4][5][6][7][8][9]
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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ www.malacards.org https://www.malacards.org/card/camptodactyly_tall_stature_scoliosis_hearing_loss_syndrome. Retrieved 2022-05-15.
{{cite web}}: Missing or empty|title=(help) - ^ "camptodactyly-tall stature-scoliosis-hearing loss syndrome Disease Ontology Browser - DOID:0111160". www.informatics.jax.org. Retrieved 2022-05-15.
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