CATSHLS
MCID: CMP025
MIFTS: 26

Camptodactyly, Tall Stature, and Hearing Loss Syndrome (CATSHLS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

MalaCards integrated aliases for Camptodactyly, Tall Stature, and Hearing Loss Syndrome:

Name: Camptodactyly, Tall Stature, and Hearing Loss Syndrome 58 54 76 30 30 6
Catshl Syndrome 58 54 60 76 38 13 74
Catshls 58 76
Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome 60
Camptodactyly, Tall Stature, Hearing Loss 41

Characteristics:

Orphanet epidemiological data:

60
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal dominant (1 family)
autosomal recessive (1 family)

Miscellaneous:
catshl is an acronym for camptodactyly, tall stature, scoliosis, and hearing loss
one family with autosomal dominant inheritance has been reported and 1 family with autosomal recessive inheritance has been reported (last curated october 2014)


HPO:

33
camptodactyly, tall stature, and hearing loss syndrome:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

UniProtKB/Swiss-Prot : 76 Camptodactyly, tall stature, and hearing loss syndrome: An autosomal dominant syndrome characterized by permanent and irreducible flexion of one or more fingers of the hand and/or feet, tall stature, scoliosis and/or a pectus excavatum, and hearing loss. Affected individuals have developmental delay and/or mental retardation, and several of these have microcephaly. Radiographic findings included tall vertebral bodies with irregular borders and broad femoral metaphyses with long tubular shafts. On audiological exam, each tested member have bilateral sensorineural hearing loss and absent otoacoustic emissions. The hearing loss was congenital or developed in early infancy, progressed variably in early childhood, and range from mild to severe. Computed tomography and magnetic resonance imaging reveal that the brain, middle ear, and inner ear are structurally normal.

MalaCards based summary : Camptodactyly, Tall Stature, and Hearing Loss Syndrome, also known as catshl syndrome, is related to camptodactyly-tall stature-scoliosis-hearing loss syndrome and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. An important gene associated with Camptodactyly, Tall Stature, and Hearing Loss Syndrome is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are MAPK signaling pathway and Regulation of actin cytoskeleton. Affiliated tissues include bone, brain and testes, and related phenotypes are high palate and scoliosis

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 85164Disease definitionCamptodactyly-tall stature-scoliosis-hearing losssyndrome 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.Visit the Orphanet disease page for more resources.

Description from OMIM: 610474

Related Diseases for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

Diseases related to Camptodactyly, Tall Stature, and Hearing Loss Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 camptodactyly-tall stature-scoliosis-hearing loss syndrome 11.7
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1

Symptoms & Phenotypes for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

Human phenotypes related to Camptodactyly, Tall Stature, and Hearing Loss Syndrome:

33 60 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 33 occasional (7.5%) HP:0000218
2 scoliosis 60 33 Very frequent (99-80%) HP:0002650
3 pectus excavatum 33 HP:0000767
4 intellectual disability 33 HP:0001249
5 hearing impairment 60 Very frequent (99-80%)
6 global developmental delay 33 HP:0001263
7 microcephaly 33 HP:0000252
8 sensorineural hearing impairment 33 HP:0000407
9 arachnodactyly 33 HP:0001166
10 camptodactyly of finger 60 Very frequent (99-80%)
11 tall stature 33 HP:0000098
12 camptodactyly of toe 33 HP:0001836
13 broad femoral metaphyses 33 HP:0006417
14 joint contracture of the hand 33 HP:0009473
15 increased vertebral height 33 HP:0004570
16 abnormality of lower limb joint 60 Very frequent (99-80%)
17 osteochondroma 33 HP:0030431

Symptoms via clinical synopsis from OMIM:

58
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Head And Neck Head:
microcephaly

Skeletal Feet:
camptodactyly

Neurologic Central Nervous System:
developmental delay
mental retardation (in some patients)

Head And Neck Mouth:
high-arched palate (in some patients)

Skeletal Spine:
scoliosis
tall vertebral bodies

Skeletal Hands:
arachnodactyly
camptodactyly

Skeletal Limbs:
broad femoral metaphyses
long limbs
osteochondroma
lateral deviation of tibiae (1 family)

Head And Neck Ears:
hearing loss, sensorineural

Growth Height:
tall stature (male mean adult height 195.6cm, female mean adult height 177.8cm)

Clinical features from OMIM:

610474

Drugs & Therapeutics for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

Search Clinical Trials , NIH Clinical Center for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

Genetic Tests for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

Genetic tests related to Camptodactyly, Tall Stature, and Hearing Loss Syndrome:

# Genetic test Affiliating Genes
1 Camptodactyly, Tall Stature, and Hearing Loss Syndrome 30 FGFR3
2 Camptodactyly, Tall Stature, and Hearing Loss Syndrome (catshl Syndrome) 30

Anatomical Context for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

MalaCards organs/tissues related to Camptodactyly, Tall Stature, and Hearing Loss Syndrome:

42
Bone, Brain, Testes

Publications for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

Articles related to Camptodactyly, Tall Stature, and Hearing Loss Syndrome:

# Title Authors Year
1
A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome. ( 27139183 )
2016
2
A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly. ( 24864036 )
2014
3
A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. ( 17033969 )
2006

Variations for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Camptodactyly, Tall Stature, and Hearing Loss Syndrome:

76
# Symbol AA change Variation ID SNP ID
1 FGFR3 p.Arg621His VAR_029108 rs121913113

ClinVar genetic disease variations for Camptodactyly, Tall Stature, and Hearing Loss Syndrome:

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR3 NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs28931614 GRCh37 Chromosome 4, 1806119: 1806119
2 FGFR3 NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs28931614 GRCh38 Chromosome 4, 1804392: 1804392
3 FGFR3 NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys) single nucleotide variant Pathogenic rs121913482 GRCh37 Chromosome 4, 1803564: 1803564
4 FGFR3 NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys) single nucleotide variant Pathogenic rs121913482 GRCh38 Chromosome 4, 1801837: 1801837
5 FGFR3 NM_001163213.1(FGFR3): c.1626C> G (p.Asn542Lys) single nucleotide variant Pathogenic rs28933068 GRCh37 Chromosome 4, 1807371: 1807371
6 FGFR3 NM_001163213.1(FGFR3): c.1626C> G (p.Asn542Lys) single nucleotide variant Pathogenic rs28933068 GRCh38 Chromosome 4, 1805644: 1805644
7 FGFR3 NM_000142.4(FGFR3): c.746C> G (p.Ser249Cys) single nucleotide variant Pathogenic rs121913483 GRCh37 Chromosome 4, 1803568: 1803568
8 FGFR3 NM_000142.4(FGFR3): c.746C> G (p.Ser249Cys) single nucleotide variant Pathogenic rs121913483 GRCh38 Chromosome 4, 1801841: 1801841
9 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh37 Chromosome 4, 1803571: 1803571
10 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh38 Chromosome 4, 1801844: 1801844
11 FGFR3 NM_000142.4(FGFR3): c.1862G> A (p.Arg621His) single nucleotide variant Pathogenic rs121913113 GRCh37 Chromosome 4, 1807803: 1807803
12 FGFR3 NM_000142.4(FGFR3): c.1862G> A (p.Arg621His) single nucleotide variant Pathogenic rs121913113 GRCh38 Chromosome 4, 1806076: 1806076
13 FGFR3 NM_000142.4(FGFR3): c.1949A> C (p.Lys650Thr) single nucleotide variant Pathogenic rs121913105 GRCh37 Chromosome 4, 1807890: 1807890
14 FGFR3 NM_000142.4(FGFR3): c.1949A> C (p.Lys650Thr) single nucleotide variant Pathogenic rs121913105 GRCh38 Chromosome 4, 1806163: 1806163
15 FGFR3 NM_000142.4(FGFR3): c.1637C> A (p.Thr546Lys) single nucleotide variant Pathogenic rs587777857 GRCh38 Chromosome 4, 1805661: 1805661
16 FGFR3 NM_000142.4(FGFR3): c.1637C> A (p.Thr546Lys) single nucleotide variant Pathogenic rs587777857 GRCh37 Chromosome 4, 1807388: 1807388
17 FGFR3 NM_000142.4(FGFR3): c.1993G> T (p.Ala665Ser) single nucleotide variant Uncertain significance rs764892330 GRCh37 Chromosome 4, 1808017: 1808017
18 FGFR3 NM_000142.4(FGFR3): c.1993G> T (p.Ala665Ser) single nucleotide variant Uncertain significance rs764892330 GRCh38 Chromosome 4, 1806290: 1806290
19 FGFR3 NM_000142.4(FGFR3): c.2153A> G (p.Asn718Ser) single nucleotide variant Uncertain significance rs139773438 GRCh37 Chromosome 4, 1808395: 1808395
20 FGFR3 NM_000142.4(FGFR3): c.2153A> G (p.Asn718Ser) single nucleotide variant Uncertain significance rs139773438 GRCh38 Chromosome 4, 1806668: 1806668
21 FGFR3 NM_000142.4(FGFR3): c.200G> A (p.Gly67Asp) single nucleotide variant Uncertain significance rs369232922 GRCh37 Chromosome 4, 1801071: 1801071
22 FGFR3 NM_000142.4(FGFR3): c.200G> A (p.Gly67Asp) single nucleotide variant Uncertain significance rs369232922 GRCh38 Chromosome 4, 1799344: 1799344
23 FGFR3 NM_000142.4(FGFR3): c.1331C> T (p.Ser444Phe) single nucleotide variant not provided GRCh37 Chromosome 4, 1806615: 1806615
24 FGFR3 NM_000142.4(FGFR3): c.1331C> T (p.Ser444Phe) single nucleotide variant not provided GRCh38 Chromosome 4, 1804888: 1804888
25 FGFR3 NM_001163213.1(FGFR3): c.2293C> T (p.Leu765=) single nucleotide variant Likely pathogenic GRCh38 Chromosome 4, 1807128: 1807128
26 FGFR3 NM_001163213.1(FGFR3): c.2293C> T (p.Leu765=) single nucleotide variant Likely pathogenic GRCh37 Chromosome 4, 1808855: 1808855

Expression for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

Search GEO for disease gene expression data for Camptodactyly, Tall Stature, and Hearing Loss Syndrome.

Pathways for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

Pathways related to Camptodactyly, Tall Stature, and Hearing Loss Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Regulation of actin cytoskeleton hsa04810

GO Terms for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

Sources for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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