CATSHLS
MCID: CMP025
MIFTS: 30

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 56 52 73 29 29 6
Catshl Syndrome 56 52 58 73 36 13 71
Catshls 56 73
Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome 58
Camptodactyly, Tall Stature, Hearing Loss 39

Characteristics:

Orphanet epidemiological data:

58
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
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:

31
camptodactyly, tall stature, and hearing loss syndrome:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 610474
KEGG 36 H00997
ICD10 via Orphanet 33 Q87.2
UMLS via Orphanet 72 C1864852
Orphanet 58 ORPHA85164
MedGen 41 C1864852
UMLS 71 C1864852

Summaries for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

UniProtKB/Swiss-Prot : 73 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 : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85164 Definition Camptodactyly-tall stature-scoliosis -hearing loss syndrome 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.

KEGG : 36 CATSHL syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss. The syndrome is caused by a missense mutation in the FGFR3 gene. FGFR3 is a negative regulator of bone growth, and its mutations are well known to cause a variety of short-limbed bone dysplasias and craniosynostosis syndromes. The finding of CATSHL syndrome indicates that abnormal FGFR3 signaling can cause human anomalies by promoting as well as inhibiting endochondral bone growth.

More information 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 11.8
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
3 scoliosis 10.2
4 craniosynostosis 10.2
5 fgfr-related craniosynostosis syndromes 10.2

Graphical network of the top 20 diseases related to Camptodactyly, Tall Stature, and Hearing Loss Syndrome:



Diseases related to Camptodactyly, Tall Stature, and Hearing Loss Syndrome

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

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

31 58 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 31 occasional (7.5%) HP:0000218
2 scoliosis 58 31 Very frequent (99-80%) HP:0002650
3 pectus excavatum 31 HP:0000767
4 intellectual disability 31 HP:0001249
5 hearing impairment 58 Very frequent (99-80%)
6 global developmental delay 31 HP:0001263
7 microcephaly 31 HP:0000252
8 sensorineural hearing impairment 31 HP:0000407
9 arachnodactyly 31 HP:0001166
10 tall stature 31 HP:0000098
11 camptodactyly of finger 58 Very frequent (99-80%)
12 camptodactyly of toe 31 HP:0001836
13 osteochondroma 31 HP:0030431
14 broad femoral metaphyses 31 HP:0006417
15 increased vertebral height 31 HP:0004570
16 joint contracture of the hand 31 HP:0009473
17 abnormality of lower limb joint 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
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:
osteochondroma
broad femoral metaphyses
long limbs
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 29 FGFR3
2 Camptodactyly, Tall Stature, and Hearing Loss Syndrome (catshl Syndrome) 29

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

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

40
Bone, Brain, Testes

Publications for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

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

# Title Authors PMID Year
1
A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. 61 56 6
17033969 2006
2
A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly. 56 6
24864036 2014
3
Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3. 56
8630492 1996
4
Fibroblast growth factor receptor 3 is a negative regulator of bone growth. 56
8601314 1996
5
A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome. 61
27139183 2016

Variations for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

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

6 (show all 14) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FGFR3 NM_000142.4(FGFR3):c.742C>T (p.Arg248Cys)SNV Pathogenic 16332 rs121913482 4:1803564-1803564 4:1801837-1801837
2 FGFR3 NM_000142.4(FGFR3):c.1620C>G (p.Asn540Lys)SNV Pathogenic 16338 rs28933068 4:1807371-1807371 4:1805644-1805644
3 FGFR3 NM_000142.4(FGFR3):c.746C>G (p.Ser249Cys)SNV Pathogenic 16339 rs121913483 4:1803568-1803568 4:1801841-1801841
4 FGFR3 NM_000142.4(FGFR3):c.749C>G (p.Pro250Arg)SNV Pathogenic 16340 rs4647924 4:1803571-1803571 4:1801844-1801844
5 FGFR3 NM_000142.4(FGFR3):c.1862G>A (p.Arg621His)SNV Pathogenic 16355 rs121913113 4:1807803-1807803 4:1806076-1806076
6 FGFR3 NM_000142.4(FGFR3):c.251C>T (p.Ser84Leu)SNV Pathogenic 16358 rs121913116 4:1801122-1801122 4:1799395-1799395
7 FGFR3 NM_000142.4(FGFR3):c.1949A>C (p.Lys650Thr)SNV Pathogenic 65855 rs121913105 4:1807890-1807890 4:1806163-1806163
8 FGFR3 NM_000142.4(FGFR3):c.1637C>A (p.Thr546Lys)SNV Pathogenic 156545 rs587777857 4:1807388-1807388 4:1805661-1805661
9 FGFR3 NM_000142.4(FGFR3):c.2287C>T (p.Leu763=)SNV Likely pathogenic 627445 rs774517056 4:1808855-1808855 4:1807128-1807128
10 FGFR3 NM_001163213.1(FGFR3):c.1144G>A (p.Gly382Arg)SNV Conflicting interpretations of pathogenicity 16327 rs28931614 4:1806119-1806119 4:1804392-1804392
11 FGFR3 NM_000142.4(FGFR3):c.1993G>T (p.Ala665Ser)SNV Uncertain significance 465350 rs764892330 4:1808017-1808017 4:1806290-1806290
12 FGFR3 NM_000142.4(FGFR3):c.2153A>G (p.Asn718Ser)SNV Uncertain significance 521225 rs139773438 4:1808395-1808395 4:1806668-1806668
13 FGFR3 NM_000142.4(FGFR3):c.200G>A (p.Gly67Asp)SNV Uncertain significance 546226 rs369232922 4:1801071-1801071 4:1799344-1799344
14 FGFR3 NM_000142.4(FGFR3):c.1331C>T (p.Ser444Phe)SNV not provided 585087 rs761325047 4:1806615-1806615 4:1804888-1804888

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

73
# Symbol AA change Variation ID SNP ID
1 FGFR3 p.Arg621His VAR_029108 rs121913113

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:

36
# 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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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