MCID: CTL005
MIFTS: 35

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 53 55 71 36 13
Hyperphalangy-Clinodactyly of Index Finger with Pierre Robin Syndrome 53 49 55 71
Pierre Robin Syndrome with Hyperphalangy and Clinodactyly 53 49 71
Index Finger Anomaly with Pierre Robin Syndrome 53 49 71
Palatodigital Syndrome, Catel-Manzke Type 53 55 71
Micrognathia Digital Syndrome 53 55 71
Catel Manzke Syndrome 49 28 69
Catmans 53 71
Pierre Robin Sequence-Hyperphalangy-Clinodactyly Syndrome 55
Pierre Robin Syndrome-Hyperphalangy-Clinodactyly Syndrome 55
Index Finger Anomaly-Pierre Robin Syndrome 55
Palatodigital Syndrome Catel-Manzke Type 49

Characteristics:

Orphanet epidemiological data:

55
catel-manzke syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
catel-manzke syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Catel-Manzke Syndrome

NIH Rare Diseases : 49 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 cleft palate, isolated, and has symptoms including joint stiffness, malar flattening and hypertelorism. An important gene associated with Catel-Manzke Syndrome is TGDS (TDP-Glucose 4,6-Dehydratase). Affiliated tissues include bone, tongue and heart.

OMIM : 53 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:

# Related Disease Score Top Affiliating Genes
1 hyperphalangy 10.5
2 cleft palate, isolated 10.2
3 pierre robin syndrome 10.2

Symptoms & Phenotypes for Catel-Manzke Syndrome

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
developmental delay
normal intelligence (majority)

Head And Neck Ears:
low-set ears
malformed ears

Chest RibsSternum Clavicles And Scapulae:
pectus excavatum
pectus carinatum

Abdomen External Features:
umbilical hernia

Head And Neck Face:
micrognathia

Cardiovascular Heart:
ventricular septal defect
overriding aorta
dextrocardia
aortic coarctation

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

Skeletal Limbs:
joint laxity
joint dislocations

Head And Neck Neck:
short neck
cystic hygroma

Genitourinary External Genitalia Male:
inguinal hernia

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

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Feet:
talipes equinovarus

Skin Nails Hair Skin:
single transverse palmar crease


Clinical features from OMIM:

616145

Human phenotypes related to Catel-Manzke Syndrome:

55 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 55 31 frequent (33%) Frequent (79-30%) HP:0001387
2 malar flattening 55 31 hallmark (90%) Very frequent (99-80%) HP:0000272
3 hypertelorism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000316
4 pectus excavatum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000767
5 abnormality of epiphysis morphology 55 31 hallmark (90%) Very frequent (99-80%) HP:0005930
6 failure to thrive 55 31 hallmark (90%) Very frequent (99-80%) HP:0001508
7 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
8 chronic otitis media 55 31 frequent (33%) Frequent (79-30%) HP:0000389
9 short stature 55 31 frequent (33%) Frequent (79-30%) HP:0004322
10 full cheeks 55 31 frequent (33%) Frequent (79-30%) HP:0000293
11 glossoptosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000162
12 cleft palate 55 31 hallmark (90%) Very frequent (99-80%) HP:0000175
13 micrognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000347
14 joint hyperflexibility 55 31 occasional (7.5%) Occasional (29-5%) HP:0005692
15 atrial septal defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001631
16 ventriculomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002119
17 clinodactyly of the 5th finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0004209
18 low-set, posteriorly rotated ears 55 31 frequent (33%) Frequent (79-30%) HP:0000368
19 ventricular septal defect 55 31 frequent (33%) Frequent (79-30%) HP:0001629
20 highly arched eyebrow 55 31 frequent (33%) Frequent (79-30%) HP:0002553
21 camptodactyly of finger 55 31 occasional (7.5%) Occasional (29-5%) HP:0100490
22 metatarsus valgus 55 31 occasional (7.5%) Occasional (29-5%) HP:0010508
23 oral synechia 55 31 occasional (7.5%) Occasional (29-5%) HP:0010285
24 radial deviation of the 2nd finger 55 31 occasional (7.5%) Occasional (29-5%) HP:0009467
25 seizures 31 HP:0001250
26 joint laxity 31 HP:0001388
27 low-set ears 31 HP:0000369
28 short neck 31 HP:0000470
29 joint dislocation 31 HP:0001373
30 high palate 31 HP:0000218
31 inguinal hernia 31 HP:0000023
32 global developmental delay 31 HP:0001263
33 pectus carinatum 31 HP:0000768
34 umbilical hernia 31 HP:0001537
35 malformation of the heart and great vessels 55 Frequent (79-30%)
36 cryptorchidism 31 HP:0000028
37 intrauterine growth retardation 31 HP:0001511
38 postnatal growth retardation 31 HP:0008897
39 cystic hygroma 31 HP:0000476
40 coarctation of aorta 31 HP:0001680
41 abnormality of the pinna 31 HP:0000377
42 talipes equinovarus 31 HP:0001762
43 overriding aorta 31 HP:0002623
44 cleft upper lip 31 HP:0000204
45 dextrocardia 31 HP:0001651
46 single transverse palmar crease 31 HP:0000954
47 camptodactyly 31 HP:0012385
48 ulnar deviation of the 2nd finger 31 HP:0009464
49 hyperphalangy of the 2nd finger 31 HP:0030368

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 28 TGDS

Anatomical Context for Catel-Manzke Syndrome

MalaCards organs/tissues related to Catel-Manzke Syndrome:

38
Bone, Tongue, Heart

Publications for Catel-Manzke Syndrome

Articles related to Catel-Manzke Syndrome:

(show all 15)
# 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
Catel-Manzke syndrome: a clinical report suggesting autosomal recessive inheritance. ( 21834032 )
2011
6
Cystic hygroma and hirsutism in a child with Catel-Manzke syndrome. ( 21383555 )
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
A male infant with the Catel-Manzke syndrome and dislocatable knees. ( 3723561 )
1986
13
Pierre Robin anomaly with an accessory metacarpal of the index fingers. The Catel-Manzke syndrome. ( 3955870 )
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
# 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
# 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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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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58 PubMed
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65 SNOMED-CT via HPO
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67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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