Camptodactyly - tall stature - scoliosis - hearing loss

General Information (adopted from Orphanet):

Synonyms, Signs: catshl syndrome
Number of Symptoms 19
OrphanetNr: 85164
OMIM Id: 610474
ICD-10: Q87.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 30 cases [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Dysostosis with predominant vertebral and costal involvement
 -Rare bone disease
 -Rare developmental defect during embryogenesis
FGFR3-related chondrodysplasia
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly 832 / 7739
2
 (HPO:0000218) High palate rare [HPO:skoehler] 356 / 7739
3
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
4
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
5
 (HPO:0001249) Intellectual disability 1089 / 7739
6
 (HPO:0001263) Global developmental delay 853 / 7739
7
 (HPO:0001836) Camptodactyly of toe 27 / 7739
8
 (HPO:0006417) Broad femoral metaphyses 1 / 7739
9
 (HPO:0100777) Exostoses 32 / 7739
10
 (HPO:0001166) Arachnodactyly 62 / 7739
11
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
12
 (HPO:0009473) Joint contracture of the hand 84 / 7739
13
 (HPO:0000767) Pectus excavatum 244 / 7739
14
 (HPO:0012385) Camptodactyly 113 / 7739
15
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
16
 (HPO:0004570) Increased vertebral height 6 / 7739
17
 (HPO:0000098) Tall stature Very frequent [Orphanet] 74 / 7739
18
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
19
 (HPO:0030431) Osteochondroma 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Toydemir et al. (2006) evaluated a large Utah pedigree in which 27 living affected family members spanning 4 generations (from a total of 35 affected individuals in 7 generations) had an autosomal dominant syndrome of camptodactyly, tall stature, ...
Molecular genetics OMIM Because the features of CATSHL syndrome overlap with those of mice homozygous for an Fgfr3-null allele (Deng et al., 1996; Colvin et al., 1996), Toydemir et al. (2006) screened affected individuals for FGFR3 mutations by direct DNA sequencing ...