CATMANS
MCID: CTL005
MIFTS: 37

Catel-Manzke Syndrome (CATMANS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Catel-Manzke Syndrome

MalaCards integrated aliases for Catel-Manzke Syndrome:

Name: Catel-Manzke Syndrome 57 73 58 72 36 39
Hyperphalangy-Clinodactyly of Index Finger with Pierre Robin Syndrome 57 20 58 72
Catel Manzke Syndrome 20 29 6 70
Pierre Robin Syndrome with Hyperphalangy and Clinodactyly 57 20 72
Index Finger Anomaly with Pierre Robin Syndrome 57 20 72
Palatodigital Syndrome, Catel-Manzke Type 57 58 72
Micrognathia Digital Syndrome 57 58 72
Catmans 57 72
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 20

Characteristics:

Orphanet epidemiological data:

58
catel-manzke syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
majority of cases are sporadic
majority of cases are male


HPO:

31
catel-manzke syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Catel-Manzke Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1388 Definition 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. Epidemiology Catel-Manzke syndrome has been described in more than 33 patients. Clinical description The key feature of Catel-Manzke syndrome is a bilateral hyperphalangy of the index finger in which there is an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. In 80% of cases, the digital abnormality is associated with Pierre Robin sequence which combines micrognathia, glossoptosis and cleft palate. Additional frequently reported congenital malformations include cardiac defects such as ventricular septal defect and interatrial communication (see these terms). Less frequent findings include iris coloboma, mild facial dysmorphism (hypertelorism, short palpebral fissures, full cheeks, low-set or posteriorly rotated ears), pectus excavatum, pectus carinatum, scoliosis, bilateral brachydactyly, bilateral fifth finger clinodactyly, knee dislocation, talipes, short halluces, failure to thrive and an intellectual disability, ranging from mild to severe. Etiology Homozygous and compound heterozygous mutations in TGDS (13q32.1) have been implicated as causal in Catel-Manzke syndrome. Diagnostic methods The disease is diagnosed at birth due to the manifestions linked with Pierre Robin sequence and the abnormal index finger. Radiological findings confirm digital abnormalities including a supernumerary deltoid or trapezoid bone located ulnarwards between the slightly shortened second metacarpal and the significantly shortened corresponding proximal phalanx. On its ulnar side, or more unusually on its radial side, the accessory bone has a pin-shaped bone, possibly an epiphysis causing a broadening of the index finger at the level of the metacarpophalangeal joint. The supernumerary bone fuses with the first phalanx in later life which may cause subluxation at the metacarpo-phalangeal joint. Differential diagnosis Differential diagnoses related to the bone abnormalities may include Desbuquois syndrome, Temtamy preaxial brachydactyly syndrome and brachydactyly type C (see these terms). Genetic counseling Transmission is autosomal recessive. Genetic counseling is recommended. Management and treatment Treatment for airway distress and/or feeding complications involves prone positioning for breathing and/or feeding and is effective for most neonates. The cleft palate is usually corrected by surgical intervention before the age of nine months. Long-term orthodontic care is required. However, follow-up by a multidisciplinary team ( pediatrician, craniofacial surgeon, cardiologist, ear, nose and throat specialist and speech therapist ) is recommended. The infant continues to need feeding and speech assessments and breathing capacity needs to be monitored. Prognosis Prognosis is good with appropriate early treatment and successful management of clinical manifestations during the first year of life.

MalaCards based summary : Catel-Manzke Syndrome, also known as hyperphalangy-clinodactyly of index finger with pierre robin syndrome, is related to hyperphalangy and pierre robin syndrome, 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 20-May-2021)

KEGG : 36 Catel-Manzke syndrome is a rare autosomal recessive disorder characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing clinodactyly of the index finger. Pierre Robin sequence is defined by micrognathia, obstruction of the airways due to a backward displacement of the tongue base, and, often but not always, cleft palate. Cardiac abnormalities, facial dysmorphisms, and additional skeletal abnormalities have also been described in a subset of patients with Catel-Manzke syndrome. Recently, homozygous or compound heterozygous pathogenic variants in TGDS have been discovered to cause Catel-Manzke syndrome.

UniProtKB/Swiss-Prot : 72 Catel-Manzke syndrome: 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).

Wikipedia : 73 Catel-Manzke syndrome is a rare genetic disorder characterized by distinctive abnormalities of the index... more...

Related Diseases for Catel-Manzke Syndrome

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

(show all 18)
# Related Disease Score Top Affiliating Genes
1 hyperphalangy 10.6
2 pierre robin syndrome 10.6
3 isolated pierre robin sequence 10.6
4 cleft palate, isolated 10.6
5 dysostosis 10.4
6 temtamy preaxial brachydactyly syndrome 10.3
7 brachydactyly 10.3
8 autosomal recessive disease 10.3
9 coloboma of macula 10.2
10 hypertelorism 10.2
11 pectus excavatum 10.2
12 chondrodysplasia with joint dislocations, gpapp type 10.2
13 scoliosis 10.2
14 clubfoot 10.2
15 ventricular septal defect 10.2
16 heart septal defect 10.2
17 cystic lymphangioma 10.2
18 coloboma of iris 10.2

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



Diseases related to Catel-Manzke Syndrome

Symptoms & Phenotypes for Catel-Manzke Syndrome

Human phenotypes related to Catel-Manzke Syndrome:

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
3 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
4 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
5 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
6 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
7 glossoptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000162
8 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
9 chronic otitis media 58 31 frequent (33%) Frequent (79-30%) HP:0000389
10 joint stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0001387
11 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
12 full cheeks 58 31 frequent (33%) Frequent (79-30%) HP:0000293
13 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
14 highly arched eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0002553
15 ventricular septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001629
16 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
17 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
18 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
19 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
20 joint hyperflexibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0005692
21 metatarsus valgus 58 31 occasional (7.5%) Occasional (29-5%) HP:0010508
22 camptodactyly of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0100490
23 oral synechia 58 31 occasional (7.5%) Occasional (29-5%) HP:0010285
24 radial deviation of the 2nd finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0009467
25 high palate 31 HP:0000218
26 short neck 31 HP:0000470
27 global developmental delay 31 HP:0001263
28 inguinal hernia 31 HP:0000023
29 pectus carinatum 31 HP:0000768
30 umbilical hernia 31 HP:0001537
31 malformation of the heart and great vessels 58 Frequent (79-30%)
32 cryptorchidism 31 HP:0000028
33 intrauterine growth retardation 31 HP:0001511
34 postnatal growth retardation 31 HP:0008897
35 low-set ears 31 HP:0000369
36 cystic hygroma 31 HP:0000476
37 coarctation of aorta 31 HP:0001680
38 joint laxity 31 HP:0001388
39 talipes equinovarus 31 HP:0001762
40 cleft upper lip 31 HP:0000204
41 joint dislocation 31 HP:0001373
42 overriding aorta 31 HP:0002623
43 dextrocardia 31 HP:0001651
44 single transverse palmar crease 31 HP:0000954
45 camptodactyly 31 HP:0012385
46 abnormality of the pinna 31 HP:0000377
47 ulnar deviation of the 2nd finger 31 HP:0009464
48 seizure 31 HP:0001250
49 hyperphalangy of the 2nd finger 31 HP:0030368

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
developmental delay
normal intelligence (majority)

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)

Growth Other:
prenatal growth deficiency
postnatal growth deficiency

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

Clinical features from OMIM®:

616145 (Updated 20-May-2021)

UMLS symptoms related to Catel-Manzke Syndrome:


seizures

Drugs & Therapeutics for Catel-Manzke Syndrome

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

Genetic Tests for Catel-Manzke Syndrome

Genetic tests related to Catel-Manzke Syndrome:

# Genetic test Affiliating Genes
1 Catel Manzke Syndrome 29 TGDS

Anatomical Context for Catel-Manzke Syndrome

MalaCards organs/tissues related to Catel-Manzke Syndrome:

40
Bone, Tongue, Heart

Publications for Catel-Manzke Syndrome

Articles related to Catel-Manzke Syndrome:

(show all 30)
# Title Authors PMID Year
1
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. 57 6 61
25480037 2014
2
IMPAD1 mutations in two Catel-Manzke like patients. 6 61 57
22887726 2012
3
Catel-Manzke syndrome: two new patients and a critical review of the literature. 57 6 61
18501694 2008
4
The Catel-Manzke syndrome in a female infant. 61 57 6
9777339 1998
5
Cystic hygroma and hirsutism in a child with Catel-Manzke syndrome. 57 61
21383555 2011
6
Catel-Manzke syndrome without cleft palate: a case report. 57 61
14564220 2003
7
Index finger hyperphalangy and multiple anomalies: Catel-Manzke syndrome? 61 57
8484405 1993
8
A male infant with the Catel-Manzke syndrome and dislocatable knees. 57 61
3723561 1986
9
Pierre Robin anomaly with an accessory metacarpal of the index fingers. The Catel-Manzke syndrome. 57 61
3955870 1986
10
Pierre Robin sequence and hyperphalangy--a genetic entity (Catel-Manzke syndrome). 57 61
6540680 1984
11
Hyperphalangy and clinodactyly of the index finger with Pierre Robin anomaly: Catel-Manzke syndrome. A case report and review of the literature. 61 57
7127881 1982
12
Catel-Manzke palatodigital syndrome in a second trimester female foetus with nuchal oedema, costovertebral anomalies and radial ray defect. 57
7888142 1994
13
Symmetric hyperphalangism of the index finger in the palatodigital syndrome: a case report. 57
6630938 1983
14
A digitopalatal syndrome with associated anomalies of the heart, face, and skeleton. 57
7401139 1980
15
Cleft palate and accessory metacarpal of index finger syndrome: possible familial occurrence. 57
641955 1978
16
[Symmetrical hyperphalangy of the second finger by a supplementary metacarpus bone]. 57
6011685 1966
17
Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism. 61
31923704 2020
18
TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy. 61
31769200 2020
19
Catel-Manzke syndrome without Manzke dysostosis. 61
31833187 2020
20
Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus. 61
28422407 2017
21
Short stature, unusual face, delta phalanx, and abnormal vertebrae and ribs in a girl born to half-siblings. 61
28371255 2017
22
Strategies to improve the performance of rare variant association studies by optimizing the selection of controls. 61
26249812 2015
23
Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in TGDS. 61
26366375 2015
24
A patient with hyperphalangism: the milder phenotype of Catel-Manzke syndrome. 61
24326962 2013
25
Catel-Manzke syndrome: a clinical report suggesting autosomal recessive inheritance. 61
21834032 2011
26
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. 61
19144099 2009
27
Catel-Manzke syndrome: a case report of a female with severely malformed hands and feet. An extension of the phenotype or a new syndrome? 61
15365460 2004
28
Desbuquois syndrome: clinical, radiographic, and morphologic characterization. 61
7977470 1994
29
[Hyperphalangia in Pierre-Robin syndrome]. 61
2147334 1990
30
[Catel-Manzke syndrome]. 61
2314003 1990

Variations for Catel-Manzke Syndrome

ClinVar genetic disease variations for Catel-Manzke Syndrome:

6 (show all 13)
# 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.892A>G (p.Asn298Asp) SNV Pathogenic 162460 rs724160005 GRCh37: 13:95228658-95228658
GRCh38: 13:94576404-94576404
5 KYNU NC_000002.12:g.142877008_142961693del Deletion Pathogenic 978267 GRCh37: 2:143634577-143719262
GRCh38: 2:142877008-142961693
6 KYNU NM_003937.3(KYNU):c.989G>A (p.Arg330Gln) SNV Pathogenic 978269 GRCh37: 2:143790838-143790838
GRCh38: 2:143033269-143033269
7 KYNU NM_003937.3(KYNU):c.326G>C (p.Trp109Ser) SNV Pathogenic 978270 GRCh37: 2:143685263-143685263
GRCh38: 2:142927694-142927694
8 KYNU NM_003937.3(KYNU):c.1282C>T (p.Arg428Trp) SNV Pathogenic 978268 GRCh37: 2:143799625-143799625
GRCh38: 2:143042056-143042056
9 TGDS NM_014305.4(TGDS):c.153+1G>T SNV Pathogenic 998312 GRCh37: 13:95246094-95246094
GRCh38: 13:94593840-94593840
10 TGDS NM_014305.4(TGDS):c.268_269GA[1] (p.Lys91fs) Microsatellite Pathogenic 162459 rs727502809 GRCh37: 13:95243149-95243150
GRCh38: 13:94590895-94590896
11 TGDS NM_014305.4(TGDS):c.97A>G (p.Met33Val) SNV Pathogenic 747821 rs144478268 GRCh37: 13:95246151-95246151
GRCh38: 13:94593897-94593897
12 TGDS NM_014305.4(TGDS):c.457-2A>G SNV Pathogenic 1032617 GRCh37: 13:95233445-95233445
GRCh38: 13:94581191-94581191
13 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:

72
# 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

Expression for Catel-Manzke Syndrome

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

Pathways for Catel-Manzke Syndrome

GO Terms for Catel-Manzke Syndrome

Sources for Catel-Manzke Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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