MCID: CTL005
MIFTS: 33

Catel-Manzke Syndrome

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

Aliases & Classifications for Catel-Manzke Syndrome

MalaCards integrated aliases for Catel-Manzke Syndrome:

Name: Catel-Manzke Syndrome 54 24 56 71 13
Hyperphalangy-Clinodactyly of Index Finger with Pierre Robin Syndrome 50 24 56 71
Pierre Robin Syndrome with Hyperphalangy and Clinodactyly 50 24 71
Index Finger Anomaly with Pierre Robin Syndrome 50 24 71
Palatodigital Syndrome, Catel-Manzke Type 24 56 71
Catel Manzke Syndrome 50 29 69
Micrognathia Digital Syndrome 56 71
Catmans 24 71
Pierre Robin Sequence-Hyperphalangy-Clinodactyly Syndrome 56
Pierre Robin Syndrome-Hyperphalangy-Clinodactyly Syndrome 56
Index Finger Anomaly-Pierre Robin Syndrome 56
Palatodigital Syndrome Catel-Manzke Type 50
Micrognathia Digtal Syndrome 24

Characteristics:

Orphanet epidemiological data:

56
catel-manzke syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal recessive

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


HPO:

32
catel-manzke syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Catel-Manzke Syndrome

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 1388disease definitioncatel-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.epidemiologycatel-manzke syndrome has been described in more than 33 patients.clinical descriptionthe 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.etiologyhomozygous and compound heterozygousmutations in tgds (13q32.1) have been implicated as causal in catel-manzke syndrome.diagnostic methodsthe 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 diagnosisdifferential diagnoses related to the bone abnormalities may include desbuquois syndrome, temtamy preaxial brachydactyly syndrome and brachydactyly type c (see these terms).genetic counselingtransmission is autosomal recessive. genetic counseling is recommended.management and treatmenttreatment 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.prognosisprognosis is good with appropriate early treatment and successful management of clinical manifestations during the first year of life.visit the orphanet disease page for more resources. last updated: 12/10/2015

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

OMIM : 54
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)

UniProtKB/Swiss-Prot : 71 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).

Related Diseases for Catel-Manzke Syndrome

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

id Related Disease Score Top Affiliating Genes
1 hyperphalangy 10.4
2 xeroderma pigmentosum, group g 9.5 CATMANS TGDS

Symptoms & Phenotypes for Catel-Manzke Syndrome

Symptoms via clinical synopsis from OMIM:

54

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

Abdomen- External Features:
umbilical hernia

Head And Neck- Face:
micrognathia

Chest- Ribs Sternum Clavicles And Scapulae:
pectus carinatum
pectus excavatum

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

Head And Neck- Neck:
short neck
cystic hygroma

Cardiovascular- Heart:
ventricular septal defect
aortic coarctation
dextrocardia
overriding aorta

Skin Nails & Hair- Skin:
single transverse palmar crease

Head And Neck- Ears:
malformed ears
low-set ears

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

Skeletal- Limbs:
joint laxity
joint dislocations

Genitourinary- Internal Genitalia Male:
cryptorchidism

Skeletal- Feet:
talipes equinovarus

Genitourinary- External Genitalia Male:
inguinal hernia

Growth- Other:
prenatal growth deficiency
postnatal growth deficiency


Clinical features from OMIM:

616145

Human phenotypes related to Catel-Manzke Syndrome:

56 32 (show all 50)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 failure to thrive 56 32 hallmark (90%) Very frequent (99-80%) HP:0001508
3 scoliosis 56 32 frequent (33%) Frequent (79-30%) HP:0002650
4 ventriculomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002119
5 micrognathia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000347
6 hypertelorism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000316
7 cleft palate 56 32 hallmark (90%) Very frequent (99-80%) HP:0000175
8 ventricular septal defect 56 32 frequent (33%) Frequent (79-30%) HP:0001629
9 pectus excavatum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000767
10 full cheeks 56 32 frequent (33%) Frequent (79-30%) HP:0000293
11 joint stiffness 56 32 frequent (33%) Frequent (79-30%) HP:0001387
12 low-set, posteriorly rotated ears 56 32 frequent (33%) Frequent (79-30%) HP:0000368
13 joint hyperflexibility 56 32 occasional (7.5%) Occasional (29-5%) HP:0005692
14 malar flattening 56 32 hallmark (90%) Very frequent (99-80%) HP:0000272
15 glossoptosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000162
16 chronic otitis media 56 32 frequent (33%) Frequent (79-30%) HP:0000389
17 abnormality of epiphysis morphology 56 32 hallmark (90%) Very frequent (99-80%) HP:0005930
18 clinodactyly of the 5th finger 56 32 hallmark (90%) Very frequent (99-80%) HP:0004209
19 highly arched eyebrow 56 32 frequent (33%) Frequent (79-30%) HP:0002553
20 camptodactyly of finger 56 32 occasional (7.5%) Occasional (29-5%) HP:0100490
21 metatarsus valgus 56 32 occasional (7.5%) Occasional (29-5%) HP:0010508
22 oral synechia 56 32 occasional (7.5%) Occasional (29-5%) HP:0010285
23 radial deviation of the 2nd finger 56 32 occasional (7.5%) Occasional (29-5%) HP:0009467
24 umbilical hernia 32 HP:0001537
25 seizures 32 HP:0001250
26 low-set ears 32 HP:0000369
27 joint laxity 32 HP:0001388
28 intrauterine growth retardation 32 HP:0001511
29 atrial septal defect 32 occasional (7.5%) HP:0001631
30 global developmental delay 32 HP:0001263
31 pectus carinatum 32 HP:0000768
32 cryptorchidism 32 HP:0000028
33 camptodactyly 32 HP:0012385
34 talipes equinovarus 32 HP:0001762
35 short neck 32 HP:0000470
36 inguinal hernia 32 HP:0000023
37 coarctation of aorta 32 HP:0001680
38 high palate 32 HP:0000218
39 postnatal growth retardation 32 HP:0008897
40 cystic hygroma 32 HP:0000476
41 dextrocardia 32 HP:0001651
42 single transverse palmar crease 32 HP:0000954
43 joint dislocation 32 HP:0001373
44 overriding aorta 32 HP:0002623
45 malformation of the heart and great vessels 56 Frequent (79-30%)
46 atria septal defect 56 Occasional (29-5%)
47 abnormality of the pinna 32 HP:0000377
48 cleft upper lip 32 HP:0000204
49 ulnar deviation of the 2nd finger 32 HP:0009464
50 hyperphalangy of the 2nd finger 32 HP:0030368

UMLS symptoms related to Catel-Manzke Syndrome:


seizures, joint laxity

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:

id Genetic test Affiliating Genes
1 Catel Manzke Syndrome 29
2 Catel-Manzke Syndrome 24 TGDS

Anatomical Context for Catel-Manzke Syndrome

MalaCards organs/tissues related to Catel-Manzke Syndrome:

39
Bone, Tongue, Heart

Publications for Catel-Manzke Syndrome

Articles related to Catel-Manzke Syndrome:

(show all 15)
id Title Authors Year
1
Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus. ( 28422407 )
2017
2
Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in TGDS. ( 26366375 )
2015
3
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. ( 25480037 )
2014
4
A patient with hyperphalangism: the milder phenotype of Catel-Manzke syndrome. ( 24326962 )
2013
5
Cystic hygroma and hirsutism in a child with Catel-Manzke syndrome. ( 21383555 )
2011
6
Catel-Manzke syndrome: a clinical report suggesting autosomal recessive inheritance. ( 21834032 )
2011
7
Catel-Manzke syndrome: two new patients and a critical review of the literature. ( 18501694 )
2008
8
Catel-Manzke syndrome: a case report of a female with severely malformed hands and feet. An extension of the phenotype or a new syndrome? ( 15365460 )
2004
9
Catel-Manzke syndrome without cleft palate: a case report. ( 14564220 )
2003
10
The Catel-Manzke syndrome in a female infant. ( 9777339 )
1998
11
Index finger hyperphalangy and multiple anomalies: Catel-Manzke syndrome? ( 8484405 )
1993
12
Pierre Robin anomaly with an accessory metacarpal of the index fingers. The Catel-Manzke syndrome. ( 3955870 )
1986
13
A male infant with the Catel-Manzke syndrome and dislocatable knees. ( 3723561 )
1986
14
Pierre Robin sequence and hyperphalangy--a genetic entity (Catel-Manzke syndrome). ( 6540680 )
1984
15
Hyperphalangy and clinodactyly of the index finger with Pierre Robin anomaly: Catel-Manzke syndrome. A case report and review of the literature. ( 7127881 )
1982

Variations for Catel-Manzke Syndrome

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

71
id 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

ClinVar genetic disease variations for Catel-Manzke Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TGDS NM_014305.3(TGDS): c.298G> T (p.Ala100Ser) single nucleotide variant Pathogenic rs140430952 GRCh37 Chromosome 13, 95243122: 95243122
2 TGDS NM_014305.3(TGDS): c.700T> C (p.Tyr234His) single nucleotide variant Pathogenic rs544436734 GRCh37 Chromosome 13, 95230384: 95230384
3 TGDS NM_014305.3(TGDS): c.269A> G (p.Glu90Gly) single nucleotide variant Pathogenic rs724160004 GRCh37 Chromosome 13, 95243151: 95243151
4 TGDS NM_014305.3(TGDS): c.294T> G (p.Phe98Leu) single nucleotide variant Pathogenic rs727502808 GRCh38 Chromosome 13, 94590872: 94590872
5 TGDS NM_014305.3(TGDS): c.270_271delGA (p.Lys91Asnfs) deletion Pathogenic rs727502809 GRCh37 Chromosome 13, 95243149: 95243150
6 TGDS NM_014305.3(TGDS): c.892A> G (p.Asn298Asp) single nucleotide variant Pathogenic rs724160005 GRCh37 Chromosome 13, 95228658: 95228658

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
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
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33 ICD10
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42 MeSH
43 MESH via Orphanet
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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