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Catel-Manzke syndrome(CATMANS)

MedGen UID:
375536
Concept ID:
C1844887
Disease or Syndrome
Synonyms: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome; Index finger anomaly with Pierre Robin syndrome; MICROGNATHIA DIGITAL SYNDROME; Palatodigital syndrome Catel-Manzke type; Pierre Robin syndrome with hyperphalangy and clinodactyly
SNOMED CT: Catel Manzke syndrome (722383001); Micrognathia digital syndrome (722383001); Palatodigital syndrome Catel-Manzke type (722383001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): TGDS (13q32.1)
 
Monarch Initiative: MONDO:0014507
OMIM®: 616145
Orphanet: ORPHA1388

Definition

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). [from OMIM]

Additional description

From NCBI curation
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).

Clinical features

From HPO
Cryptorchidism
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Clubfoot
MedGen UID:
3130
Concept ID:
C0009081
Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Short femur
MedGen UID:
87499
Concept ID:
C0345375
Congenital Abnormality
An abnormal shortening of the femur.
Single transverse palmar crease
MedGen UID:
96108
Concept ID:
C0424731
Finding
The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.
Thumbs, congenital Clasped
MedGen UID:
98140
Concept ID:
C0431886
Congenital Abnormality
In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.
Genu valgum
MedGen UID:
154364
Concept ID:
C0576093
Anatomical Abnormality
The legs angle inward, such that the knees are close together and the ankles far apart.
Short humerus
MedGen UID:
316907
Concept ID:
C1832117
Congenital Abnormality
Underdevelopment of the humerus.
Short toe
MedGen UID:
322858
Concept ID:
C1836195
Finding
A toe that appears disproportionately short compared to the foot.
Short metacarpal
MedGen UID:
323064
Concept ID:
C1837084
Anatomical Abnormality
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Ulnar deviation of the 2nd finger
MedGen UID:
336806
Concept ID:
C1844891
Finding
Displacement of the 2nd (index) finger towards the ulnar side.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Hyperphalangy of the 2nd finger
MedGen UID:
892763
Concept ID:
C4072907
Anatomical Abnormality
An accessory phalanx of the index (second) finger that is arranged linearly with the other phalanges. Hyperphalangy of the index finger results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. Note that this term refers only to this type of hyperphalangy.
Coarctation of aorta
MedGen UID:
1617
Concept ID:
C0003492
Congenital Abnormality
Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.
Dextrocardia
MedGen UID:
4255
Concept ID:
C0011813
Congenital Abnormality
The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Overriding aorta
MedGen UID:
120559
Concept ID:
C0265886
Congenital Abnormality
An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle.
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Postnatal growth retardation
MedGen UID:
395343
Concept ID:
C1859778
Finding
Slow or limited growth after birth.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Joint dislocation
MedGen UID:
41614
Concept ID:
C0012691
Injury or Poisoning
Displacement or malalignment of joints.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Pectus carinatum
MedGen UID:
57643
Concept ID:
C0158731
Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Camptodactyly
MedGen UID:
195780
Concept ID:
C0685409
Congenital Abnormality
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
Joint hypermobility
MedGen UID:
336793
Concept ID:
C1844820
Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Pectus excavatum
MedGen UID:
781174
Concept ID:
C2051831
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Cleft upper lip
MedGen UID:
40327
Concept ID:
C0008924
Congenital Abnormality
A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Narrow mouth
MedGen UID:
44435
Concept ID:
C0026034
Congenital Abnormality
Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
Isolated Pierre-Robin syndrome
MedGen UID:
19310
Concept ID:
C0031900
Congenital Abnormality
Pierre Robin sequence is a craniofacial anomaly comprising mandibular hypoplasia, cleft secondary palate, and glossoptosis leading to life-threatening obstructive apnea and feeding difficulaties during the neonatal period (summary by Tan et al., 2013).
Cystic hygroma
MedGen UID:
60195
Concept ID:
C0206620
Neoplastic Process
A cystic lymphatic lesion of the neck.
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Glossoptosis
MedGen UID:
78623
Concept ID:
C0267048
Disease or Syndrome
Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly.
Upslanted palpebral fissure
MedGen UID:
98390
Concept ID:
C0423109
Finding
The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
Narrow nose
MedGen UID:
98086
Concept ID:
C0426422
Finding
Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae.
Narrow naris
MedGen UID:
604875
Concept ID:
C0426439
Finding
Slender, slit-like aperture of the nostril.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Nasolacrimal duct obstruction
MedGen UID:
226915
Concept ID:
C1281931
Finding
Blockage of the lacrimal duct.
Full cheeks
MedGen UID:
355661
Concept ID:
C1866231
Finding
Increased prominence or roundness of soft tissues between zygomata and mandible.
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Low insertion of columella
MedGen UID:
866874
Concept ID:
C4021229
Finding
Insertion of the posterior columella below the nasal base.
Thin eyebrow
MedGen UID:
924116
Concept ID:
C4281771
Finding
Decreased diameter of eyebrow hairs.
Bifid uvula
MedGen UID:
1646931
Concept ID:
C4551488
Congenital Abnormality
Uvula separated into two parts most easily seen at the tip.
Proptosis
MedGen UID:
41917
Concept ID:
C0015300
Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCatel-Manzke syndrome
Follow this link to review classifications for Catel-Manzke syndrome in Orphanet.

Recent clinical studies

Etiology

Cichocka-Jarosz E, Stobiecki M, Brzyski P, Rogatko I, Nittner-Marszalska M, Sztefko K, Czarnobilska E, Lis G, Nowak-Węgrzyn A
Ann Allergy Asthma Immunol 2017 Mar;118(3):326-332. Epub 2016 Dec 13 doi: 10.1016/j.anai.2016.11.006. PMID: 27986410
Zhu N, Heinrich V, Dickhaus T, Hecht J, Robinson PN, Mundlos S, Kamphans T, Krawitz PM
Bioinformatics 2015 Nov 15;31(22):3577-83. Epub 2015 Aug 6 doi: 10.1093/bioinformatics/btv457. PMID: 26249812
Manzke H, Lehmann K, Klopocki E, Caliebe A
Eur J Med Genet 2008 Sep-Oct;51(5):452-65. Epub 2008 Apr 11 doi: 10.1016/j.ejmg.2008.03.005. PMID: 18501694
Dignan PS, Martin LW, Zenni EJ Jr
Clin Genet 1986 Feb;29(2):168-73. doi: 10.1111/j.1399-0004.1986.tb01244.x. PMID: 3955870

Diagnosis

Schüle I, Berger U, Matysiak U, Ruzaike G, Stiller B, Pohl M, Spiekerkoetter U, Lausch E, Grünert SC, Schmidts M
Genes (Basel) 2021 Jun 7;12(6) doi: 10.3390/genes12060879. PMID: 34200361Free PMC Article
Ehmke N, Cusmano-Ozog K, Koenig R, Holtgrewe M, Nur B, Mihci E, Babcock H, Gonzaga-Jauregui C, Overton JD, Xiao J, Martinez AF, Muenke M, Balzer A, Jochim J, El Choubassi N, Fischer-Zirnsak B, Huber C, Kornak U, Elsea SH, Cormier-Daire V, Ferreira CR
Bone 2020 Apr;133:115219. Epub 2020 Jan 7 doi: 10.1016/j.bone.2019.115219. PMID: 31923704Free PMC Article
Miller DE, Chow P, Gallagher ER, Perkins JA, Wenger TL
Am J Med Genet A 2020 Mar;182(3):437-440. Epub 2019 Dec 12 doi: 10.1002/ajmg.a.61436. PMID: 31833187
Boschann F, Stuurman KE, de Bruin C, van Slegtenhorst M, van Duyvenvoorde HA, Kant SG, Ehmke N
Am J Med Genet A 2020 Mar;182(3):431-436. Epub 2019 Nov 25 doi: 10.1002/ajmg.a.61419. PMID: 31769200
Schoner K, Bald R, Horn D, Rehder H, Kornak U, Ehmke N
Am J Med Genet A 2017 Jun;173(6):1694-1697. Epub 2017 Apr 19 doi: 10.1002/ajmg.a.38209. PMID: 28422407

Therapy

Cichocka-Jarosz E, Stobiecki M, Brzyski P, Rogatko I, Nittner-Marszalska M, Sztefko K, Czarnobilska E, Lis G, Nowak-Węgrzyn A
Ann Allergy Asthma Immunol 2017 Mar;118(3):326-332. Epub 2016 Dec 13 doi: 10.1016/j.anai.2016.11.006. PMID: 27986410

Prognosis

Schoner K, Bald R, Horn D, Rehder H, Kornak U, Ehmke N
Am J Med Genet A 2017 Jun;173(6):1694-1697. Epub 2017 Apr 19 doi: 10.1002/ajmg.a.38209. PMID: 28422407
Stanghellini I, Dassi E, Bertorelli R, De Sanctis V, Caleffi A, Landi A, Percesepe A
Eur J Med Genet 2015 Nov;58(11):597-602. Epub 2015 Sep 28 doi: 10.1016/j.ejmg.2015.09.010. PMID: 26420031
Ehmke N, Caliebe A, Koenig R, Kant SG, Stark Z, Cormier-Daire V, Wieczorek D, Gillessen-Kaesbach G, Hoff K, Kawalia A, Thiele H, Altmüller J, Fischer-Zirnsak B, Knaus A, Zhu N, Heinrich V, Huber C, Harabula I, Spielmann M, Horn D, Kornak U, Hecht J, Krawitz PM, Nürnberg P, Siebert R, Manzke H, Mundlos S
Am J Hum Genet 2014 Dec 4;95(6):763-70. doi: 10.1016/j.ajhg.2014.11.004. PMID: 25480037Free PMC Article

Clinical prediction guides

Schoner K, Bald R, Horn D, Rehder H, Kornak U, Ehmke N
Am J Med Genet A 2017 Jun;173(6):1694-1697. Epub 2017 Apr 19 doi: 10.1002/ajmg.a.38209. PMID: 28422407
Stanghellini I, Dassi E, Bertorelli R, De Sanctis V, Caleffi A, Landi A, Percesepe A
Eur J Med Genet 2015 Nov;58(11):597-602. Epub 2015 Sep 28 doi: 10.1016/j.ejmg.2015.09.010. PMID: 26420031
Ehmke N, Caliebe A, Koenig R, Kant SG, Stark Z, Cormier-Daire V, Wieczorek D, Gillessen-Kaesbach G, Hoff K, Kawalia A, Thiele H, Altmüller J, Fischer-Zirnsak B, Knaus A, Zhu N, Heinrich V, Huber C, Harabula I, Spielmann M, Horn D, Kornak U, Hecht J, Krawitz PM, Nürnberg P, Siebert R, Manzke H, Mundlos S
Am J Hum Genet 2014 Dec 4;95(6):763-70. doi: 10.1016/j.ajhg.2014.11.004. PMID: 25480037Free PMC Article

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