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CATMANS
MCID: CTL005
MIFTS: 38

Catel-Manzke Syndrome (CATMANS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases
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Aliases & Classifications for Catel-Manzke Syndrome

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MalaCards integrated aliases for Catel-Manzke Syndrome:

Name: Catel-Manzke Syndrome 57 58 75 73 28 5 38
Hyperphalangy-Clinodactyly of Index Finger with Pierre Robin Syndrome 57 11 19 58 73
Micrognathia Digital Syndrome 57 11 58 73
Catel Manzke Syndrome 11 19 43 71
Pierre Robin Syndrome with Hyperphalangy and Clinodactyly 57 19 73
Index Finger Anomaly with Pierre Robin Syndrome 57 19 73
Palatodigital Syndrome, Catel-Manzke Type 57 58 73
Catmans 57 73
Pierre Robin Sequence-Hyperphalangy-Clinodactyly Syndrome 58
Pierre Robin Syndrome-Hyperphalangy-Clinodactyly Syndrome 58
Index Finger Anomaly-Pierre Robin Syndrome 58
Palatodigital Syndrome Catel-Manzke Type 19

Characteristics:


Inheritance:

Autosomal recessive 58 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
majority of cases are sporadic
majority of cases are male


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Bone diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Catel-Manzke Syndrome

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Disease Ontology: 11 A bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has material basis in homozygous or compound heterozygous mutation in the TGDS gene on chromosome 13q32.

MalaCards based summary: Catel-Manzke Syndrome, also known as hyperphalangy-clinodactyly of index finger with pierre robin syndrome, is related to pierre robin syndrome and hyperphalangy, and has symptoms including seizures An important gene associated with Catel-Manzke Syndrome is TGDS (TDP-Glucose 4,6-Dehydratase). Affiliated tissues include bone, tongue and heart, and related phenotypes are failure to thrive and cleft palate

OMIM®: 57 Catel-Manzke syndrome is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger (summary by Manzke et al., 2008). (616145) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 A syndrome characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia).

GARD: 19 Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis.

Orphanet: 58 Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis.

Wikipedia: 75 Catel-Manzke syndrome is a rare genetic disorder characterized by distinctive abnormalities of the index... more...
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Related Diseases for Catel-Manzke Syndrome

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Diseases related to Catel-Manzke Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 pierre robin syndrome 10.7
2 hyperphalangy 10.7
3 cleft palate, isolated 10.6
4 dysostosis 10.5
5 temtamy preaxial brachydactyly syndrome 10.4
6 brachydactyly 10.4
7 coloboma of macula 10.2
8 hypertelorism 10.2
9 pectus excavatum 10.2
10 chondrodysplasia with joint dislocations, gpapp type 10.2
11 vertebral, cardiac, renal, and limb defects syndrome 1 10.2
12 vertebral, cardiac, renal, and limb defects syndrome 2 10.2
13 scoliosis 10.2
14 ventricular septal defect 10.2
15 heart septal defect 10.2
16 cystic lymphangioma 10.2
17 hypoplastic left heart syndrome 10.2
18 coloboma of iris 10.2
19 hydroxykynureninuria 9.6 TGDS KYNU

Graphical network of the top 20 diseases related to Catel-Manzke Syndrome:



Diseases related to Catel-Manzke Syndrome
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Symptoms & Phenotypes for Catel-Manzke Syndrome

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Human phenotypes related to Catel-Manzke Syndrome:

58 30 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001508
2 cleft palate 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000175
3 micrognathia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000347
4 clinodactyly of the 5th finger 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0004209
5 malar flattening 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000272
6 glossoptosis 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000162
7 abnormal epiphysis morphology 30 Hallmark (90%) HP:0005930
8 scoliosis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002650
9 chronic otitis media 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000389
10 joint stiffness 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001387
11 short stature 58 30 Frequent (33%) Frequent (79-30%)
 HP:0004322
12 full cheeks 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000293
13 low-set, posteriorly rotated ears 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000368
14 highly arched eyebrow 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002553
15 ventricular septal defect 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001629
16 hypertelorism 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000316
17 pectus excavatum 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000767
18 atrial septal defect 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001631
19 ventriculomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002119
20 joint hyperflexibility 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0005692
21 metatarsus valgus 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0010508
22 camptodactyly of finger 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0100490
23 radial deviation of the 2nd finger 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0009467
24 oral synechia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0010285
25 seizure 30 HP:0001250
26 high palate 30 HP:0000218
27 short neck 30 HP:0000470
28 global developmental delay 30 HP:0001263
29 inguinal hernia 30 HP:0000023
30 pectus carinatum 30 HP:0000768
31 umbilical hernia 30 HP:0001537
32 malformation of the heart and great vessels 58 Frequent (79-30%)
33 cryptorchidism 30 HP:0000028
34 intrauterine growth retardation 30 HP:0001511
35 postnatal growth retardation 30 HP:0008897
36 low-set ears 30 HP:0000369
37 cystic hygroma 30 HP:0000476
38 coarctation of aorta 30 HP:0001680
39 joint laxity 30 HP:0001388
40 talipes equinovarus 30 HP:0001762
41 cleft upper lip 30 HP:0000204
42 abnormality of epiphysis morphology 58 Very frequent (99-80%)
43 joint dislocation 30 HP:0001373
44 overriding aorta 30 HP:0002623
45 dextrocardia 30 HP:0001651
46 single transverse palmar crease 30 HP:0000954
47 camptodactyly 30 HP:0012385
48 ulnar deviation of the 2nd finger 30 HP:0009464
49 hyperphalangy of the 2nd finger 30 HP:0030368

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Neck:
short neck
cystic hygroma

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
pectus excavatum

Head And Neck Mouth:
cleft palate
glossoptosis
cleft lip
high-arched palate
robin anomaly

Head And Neck Face:
micrognathia

Skeletal Limbs:
joint laxity
joint dislocations

Cardiovascular Heart:
ventricular septal defect
overriding aorta
dextrocardia
aortic coarctation

Skin Nails Hair Skin:
single transverse palmar crease

Growth Other:
prenatal growth deficiency
postnatal growth deficiency

Genitourinary External Genitalia Male:
inguinal hernia

Abdomen External Features:
umbilical hernia

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Ears:
low-set ears
malformed ears

Skeletal Feet:
talipes equinovarus

Skeletal Hands:
single transverse palmar crease
camptodactyly
fifth finger clinodactyly
ulnar angulation of the index finger
hyperphalangy of index finger (accessory bone between 2nd-3rd proximal phalanges)

Neurologic Central Nervous System:
seizures
developmental delay
normal intelligence (majority)

Clinical features from OMIM®:

616145 (Updated 08-Dec-2022)

UMLS symptoms related to Catel-Manzke Syndrome:


seizures
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Drugs & Therapeutics for Catel-Manzke Syndrome

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Search Clinical Trials, NIH Clinical Center for Catel-Manzke Syndrome

Cochrane evidence based reviews: catel manzke syndrome

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Genetic Tests for Catel-Manzke Syndrome

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Genetic tests related to Catel-Manzke Syndrome:

# Genetic test Affiliating Genes
1 Catel-Manzke Syndrome 28 TGDS
Sources

Anatomical Context for Catel-Manzke Syndrome

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Organs/tissues related to Catel-Manzke Syndrome:

MalaCards : Bone, Tongue, Heart
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Publications for Catel-Manzke Syndrome

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Articles related to Catel-Manzke Syndrome:

(show all 32)
# Title Authors PMID Year
1
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. 62 57 5
25480037 2014
2
IMPAD1 mutations in two Catel-Manzke like patients. 62 57 5
22887726 2012
3
Catel-Manzke syndrome: two new patients and a critical review of the literature. 62 57 5
18501694 2008
4
The Catel-Manzke syndrome in a female infant. 62 57 5
9777339 1998
5
Catel-Manzke syndrome without Manzke dysostosis. 62 5
31833187 2020
6
Cystic hygroma and hirsutism in a child with Catel-Manzke syndrome. 62 57
21383555 2011
7
Catel-Manzke syndrome without cleft palate: a case report. 62 57
14564220 2003
8
Index finger hyperphalangy and multiple anomalies: Catel-Manzke syndrome? 62 57
8484405 1993
9
A male infant with the Catel-Manzke syndrome and dislocatable knees. 62 57
3723561 1986
10
Pierre Robin anomaly with an accessory metacarpal of the index fingers. The Catel-Manzke syndrome. 62 57
3955870 1986
11
Pierre Robin sequence and hyperphalangy--a genetic entity (Catel-Manzke syndrome). 62 57
6540680 1984
12
Hyperphalangy and clinodactyly of the index finger with Pierre Robin anomaly: Catel-Manzke syndrome. A case report and review of the literature. 62 57
7127881 1982
13
Catel-Manzke palatodigital syndrome in a second trimester female foetus with nuchal oedema, costovertebral anomalies and radial ray defect. 57
7888142 1994
14
Symmetric hyperphalangism of the index finger in the palatodigital syndrome: a case report. 57
6630938 1983
15
A digitopalatal syndrome with associated anomalies of the heart, face, and skeleton. 57
7401139 1980
16
Cleft palate and accessory metacarpal of index finger syndrome: possible familial occurrence. 57
641955 1978
17
[Symmetrical hyperphalangy of the second finger by a supplementary metacarpus bone]. 57
6011685 1966
18
The Pathogenesis of Pierre Robin Sequence through a Review of SOX9 and Its Interactions. 62
35415063 2022
19
A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome. 62
34200361 2021
20
Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism. 62
31923704 2020
21
TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy. 62
31769200 2020
22
Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus. 62
28422407 2017
23
Short stature, unusual face, delta phalanx, and abnormal vertebrae and ribs in a girl born to half-siblings. 62
28371255 2017
24
Strategies to improve the performance of rare variant association studies by optimizing the selection of controls. 62
26249812 2015
25
Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in TGDS. 62
26366375 2015
26
A patient with hyperphalangism: the milder phenotype of Catel-Manzke syndrome. 62
24326962 2013
27
Catel-Manzke syndrome: a clinical report suggesting autosomal recessive inheritance. 62
21834032 2011
28
Advanced ossification of the carpal bones, and monkey wrench appearance of the femora, features suggestive of a propable mild form of desbeqious dysplasia: a case report and review of the literature. 62
19144099 2009
29
Catel-Manzke syndrome: a case report of a female with severely malformed hands and feet. An extension of the phenotype or a new syndrome? 62
15365460 2004
30
Desbuquois syndrome: clinical, radiographic, and morphologic characterization. 62
7977470 1994
31
[Hyperphalangia in Pierre-Robin syndrome]. 62
2147334 1990
32
[Catel-Manzke syndrome]. 62
2314003 1990
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Variations for Catel-Manzke Syndrome

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ClinVar genetic disease variations for Catel-Manzke Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TGDS NM_014305.4(TGDS):c.700T>C (p.Tyr234His) SNV Pathogenic
 162456 rs544436734 GRCh37: 13:95230384-95230384
GRCh38: 13:94578130-94578130
2 TGDS NM_014305.4(TGDS):c.269A>G (p.Glu90Gly) SNV Pathogenic
 162457 rs724160004 GRCh37: 13:95243151-95243151
GRCh38: 13:94590897-94590897
3 TGDS NM_014305.4(TGDS):c.294T>G (p.Phe98Leu) SNV Pathogenic
 162458 rs727502808 GRCh37: 13:95243126-95243126
GRCh38: 13:94590872-94590872
4 TGDS NM_014305.4(TGDS):c.270_271del (p.Lys91fs) MICROSAT Pathogenic
 162459 rs727502809 GRCh37: 13:95243149-95243150
GRCh38: 13:94590895-94590896
5 TGDS NM_014305.4(TGDS):c.892A>G (p.Asn298Asp) SNV Pathogenic
 162460 rs724160005 GRCh37: 13:95228658-95228658
GRCh38: 13:94576404-94576404
6 KYNU NC_000002.12:g.142877008_142961693del DEL Pathogenic
 978267 GRCh37: 2:143634577-143719262
GRCh38: 2:142877008-142961693
7 KYNU NM_003937.3(KYNU):c.1282C>T (p.Arg428Trp) SNV Pathogenic
 978268 rs147475752 GRCh37: 2:143799625-143799625
GRCh38: 2:143042056-143042056
8 KYNU NM_003937.3(KYNU):c.989G>A (p.Arg330Gln) SNV Pathogenic
 978269 rs142934146 GRCh37: 2:143790838-143790838
GRCh38: 2:143033269-143033269
9 KYNU NM_003937.3(KYNU):c.326G>C (p.Trp109Ser) SNV Pathogenic
 978270 rs780720490 GRCh37: 2:143685263-143685263
GRCh38: 2:142927694-142927694
10 TGDS NM_014305.4(TGDS):c.298G>T (p.Ala100Ser) SNV Pathogenic
 162455 rs140430952 GRCh37: 13:95243122-95243122
GRCh38: 13:94590868-94590868

UniProtKB/Swiss-Prot genetic disease variations for Catel-Manzke Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 TGDS p.Glu90Gly VAR_072682 rs724160004
2 TGDS p.Phe98Leu VAR_072683 rs727502808
3 TGDS p.Ala100Ser VAR_072684 rs140430952
4 TGDS p.Tyr234His VAR_072685 rs544436734
5 TGDS p.Asn298Asp VAR_072686 rs724160005

Sources

Expression for Catel-Manzke Syndrome

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Search GEO for disease gene expression data for Catel-Manzke Syndrome.
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Pathways for Catel-Manzke Syndrome

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GO Terms for Catel-Manzke Syndrome

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Sources for Catel-Manzke Syndrome

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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