Catel-Manzke syndrome (CATMANS)

Qu'est-ce que Catel-Manzke syndrome (CATMANS)?

This rare disease is a genetic condition that was first identified in 1961.

There are currently 33 cases of the syndrome recorded globally, to date.

The syndrome presents with unique facial features, anomalies of the digits (the fingers specifically), and features of the Pierre Robin sequence (cleft lip, small jaw, tongue placed further back in the mouth).

This syndrome is also known as:
CATMANS Digitopalatal syndrome

Quelles sont les causes des changements génétiques Catel-Manzke syndrome (CATMANS)?

Le syndrome est le résultat de mutations dans le TGDS. On pense qu'il est hérité selon un schéma autosomique récessif, mais des recherches supplémentaires sont en cours sur les causes exactes du syndrome, car beaucoup sont encore inconnues.

L'hérédité autosomique récessive signifie qu'un individu affecté reçoit une copie d'un gène muté de chacun de ses parents, ce qui lui donne deux copies d'un gène muté. Les parents qui ne portent qu'une seule copie de la mutation génique ne présenteront généralement aucun symptôme, mais auront 25% de chances de transmettre les copies des mutations génétiques à chacun de leurs enfants.

Quels sont les principaux symptômes de Catel-Manzke syndrome (CATMANS)?

Index fingers locked in a bent position is a defining feature of the condition. As are features from the Pierre Robin sequence: a cleft palate, small jaw and a tongue positioned much further back in the mouth.

Unique facial features of the syndrome include a widely spaced eyes, full cheeks, low set ears, thin eyebrows, narrow nostrils, and short big toes.

Dislocation and looseness of the joints are also common symptoms. Along with a sunken breastbone and scoliosis.

As with the causes of the syndrome, research is ongoing into the exact symptoms of the syndrome and their prevalence.

Possible clinical traits/features:
High palate, Postnatal growth retardation, Global developmental delay, Glossoptosis, Seizure, Short neck, Pectus carinatum, Overriding aorta, Intrauterine growth retardation, Inguinal hernia, Low-set ears, Pectus excavatum, Micrognathia, Joint contracture of the hand, Joint dislocation, Joint laxity, X-linked recessive inheritance, Ventricular septal defect, Umbilical hernia, Talipes equinovarus, Sporadic, Camptodactyly, Ulnar deviation of the 2nd finger, Pseudoepiphyses of the 2nd finger, Recurrent abscess formation, Clinodactyly of the 5th finger, Cleft upper lip, Coarctation of aorta, Cystic hygroma, Cryptorchidism, Turricephaly, Facial palsy, Dextrocardia, Cleft palate, Bilateral single transverse palmar creases, Abnormality of the pinna, Abnormality of the ribs

Comment quelqu'un se fait-il tester pour Catel-Manzke syndrome (CATMANS)?

Le dépistage initial du syndrome de Catel-Manzke peut commencer par un dépistage par analyse faciale, via le FDNA Telehealth plate-forme de télégénétique, qui peut identifier les marqueurs clés du syndrome et souligner le besoin de tests supplémentaires. Une consultation avec un conseiller en génétique puis un généticien suivra.

Sur la base de cette consultation clinique avec un généticien, les différentes options de tests génétiques seront partagées et le consentement sera demandé pour des tests supplémentaires.

Informations médicales sur Catel-Manzke syndrome (CATMANS)

Manzke (1966) published a detailed report of an infant first briefly reported by Catel in 1961. Since that time about ten further cases have been described. The key features are micrognathia, cleft palate, glossoptosis and an accessory (usually triangular) bone at the base of the index finger. Manzke et al., (2008), describe it as follows - the supernumerary deltoid or trapezoid bone is located ulnarwards between the slightly shortened second metacarpal and the significantly shortened corresponding proximal phalanx. On its ulnar side (occasionally on the radial side), the accessory bone has a pin-shaped bone, probably an epiphysis, causing a broadening of the index finger at the level of the metacarpophalangeal joint. Clinically the children have the appearance of severe Pierre Robin association with a short, flexed and ulnar-deviated index finger. Five cases have had congenital heart disease, mainly septal defects. Thompson et al., (1986) described a case with dislocatable knees. Most cases have been sporadic with male preponderance but Gewitz et al., (1978) described an affected male whose brother died of Pierre Robin association and an ASD, and Stevenson et al., (1980) described male-to-male transmission of the finger deformity in a family with a fully affected child. Puri and Phadke (2003) and Kiraz et al., (2013) reported cases without cleft palate.
Wilson et al., (1993) reported another possible case. This 2 1/2-year-old boy had some unusual features. He had developmental delay, a right iris coloboma, a VSD, and scoliosis. Two maternal uncles were said to have been similarly affected.
Petit et al., (1994) reported another unusual case. This was a 19-week fetus picked up by ultrasound because of nuchal oedema. One thumb was absent and there was some radial hypoplasia. There was mitral valve atresia, a hypoplastic left ventricle, and a VSD with pulmonary valve atresia and hypoplasia of the pulmonary trunk (a form of Fallot's tetralogy). There was absence of lobulation of the right lung.
Dudin et al., (1995) reported an 8-year-old boy with a choledochal cyst who had hand features of the condition only.
Clarkson et al., (2004) reported a case, born to consanguineous parents. The case was unusual in that it was more severe than most. There were 3 accessory ossicles at the bases of the index, middle, ring and little fingers bilaterally and the feet were more severe (short halluces and short 4th, with medial deviation of most of the toes), than in previous case reports. The authors provide an excellent review of the literature. Although published under Catel-Manzke, Temtamy (2005) suggests that this case might have her syndrome (Temtamy (1998) - brachydactyly - hyperphalangism - deafness - MR syndrome (seeelsewhere). Deafness was present, but intelligence was normal as was the palate.The parents were cousins.
The condition is expertly reviewed by Manzke et al., (2008). Two new patients are added and one of the original patients re-examined. Cystic hygroma and hirsutism can be part of the picture (Kapoor et al., 2011).
Two sibs born to consanguineous parents were reported by Kiper at al., (2011) - see under Catel-Manzke like syndrome
Using a patient from Cameroon, another the offspring of a British-south Americal couple and those from the Manzke et al., (2008), Kant et al., (1998), and Nizon et al., (2012) publications Emke et al., (2014) have found homozygous mutations in TGDS (which plays a role in nucleotide sugar metabolism)
Ehmke et al. (2014) described seven patients from unrelated non-consanguineous families with typical Catel-Manzke syndrome. The authors identified six different homozygous and compound heterozygous mutations in TGDS gene. All seven patients had Pierre Robin sequence, Manzke dysostosis and dysmorphism.
Pferdehirt et al. (2015) described a one year old patient with homozygous TGDS mutation and Pierre Robin sequence, Manzke dysostosis, dysmorphic features (prominent overriding sutures, a tubular-appearing nose with high nasal bridge and pinched nares, retrognathia, high and narrow arched palate with small groove of the posterior soft palate, ankyloglossia, mild swelling of the eyelids with proptosis), long fingers and toes, deviated and overlapping index fingers, and significant failure to thrive.
Schoner et al. (2017) described a prenatal case of 22 weeks gestational age with Catel-Manzke syndrome due to a compound heterozygous mutation in the TGDS gene. Clinical characteristics included hygroma colli, ventricular septal defect, coarctation of the aorta, retrognathia, cleft palate, V-shaped malposition of the fingers, and malposition of the feet. Post mortem examination showed additional findings including dolichocephaly, broad forehead, widely spaced eyes, proptosis, short nose with depressed nasal bridge, long philtrum, narrow mouth, full cheeks, low-set and posteriorly rotated ears with attached earlobe, Pierre-Robin sequence, short neck, narrow shoulder girdle, prominent abdomen, radial deviation with ulnar clinodactyly and shortening of the index fingers, shortening and broadening of the first metatarsals, medially displaced proximal phalanges of both halluces, and eleven pairs of ribs.

* This information is courtesy of the L M D.
If you find a mistake or would like to contribute additional information, please email us at: [email protected]

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