camptodactyly-tall stature-scoliosis-hearing loss syndrome
Findings
No curated finding names camptodactyly-tall stature-scoliosis-hearing loss syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized 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.
Definition from the Mondo Disease Ontology (MONDO:0012504), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- ArachnodactylyHPOHP:0001166
- 2 of 2 reported patients
- Hearing impairmentHPOHP:0000365
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- High palateHPOHP:0000218
- 2 of 2 reported patients
- ScoliosisHPOHP:0002650
- 12 of 12 reported patients
- Very frequent (80% to 99% of cases)
- Tall statureHPOHP:0000098
- 12 of 12 reported patients
- Intellectual disabilityHPOHP:0001249
- 11 of 12 reported patients
Show the remaining 3
- MicrocephalyHPOHP:0000252
- OsteochondromaHPOHP:0030431
- Pectus excavatumHPOHP:0000767
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FGFR3HGNC:3690
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Semidominant · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Moderate · ClinGen · Semidominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: camptodactyly-tall stature-scoliosis-hearing loss syndrome
- Also called
- CATSHL syndrome