Catel Manzke Syndrome

Last update 01 Nov 2024

Basic Info

Synonyms

CATEL-MANZKE SYNDROME, CATMANS, Catel Manzke syndrome

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Introduction

A rare bone disease with anomaly of both index fingers (accessory ossicle at the metacarpophalangeal joint with resulting ulnar deviation) and typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. In 80% of cases, the digital abnormality is associated with Pierre Robin sequence. Additional frequently reported congenital malformations include cardiac defects such as ventricular septal defect and interatrial communication. Homozygous and compound heterozygous mutations in TGDS (13q32.1) have been implicated as causal in this syndrome. Transmission is autosomal recessive. Genetic counselling is recommended.

100 Clinical Results associated with Catel Manzke Syndrome

100 Translational Medicine associated with Catel Manzke Syndrome

0 Patents (Medical) associated with Catel Manzke Syndrome

Literatures (Medical) associated with Catel Manzke Syndrome

01 Aug 2024·European Journal of Pediatric Surgery

Early-Onset Pectus Excavatum Is More Likely to Be Part of a Genetic Variation

Article

Author: Billar, Ryan ; Kant, Sarina ; Sleutels, Frank ; Demirdas, Serwet ; Wijnen, René ; Heyman, Stijn ; Schnater, J Marco

Abstract Background Potential underlying genetic variations of pectus excavatum (PE) are quite rare. Only one-fifth of PE cases are identified in the first decade of life and thus are of congenital origin. The objective of this study is to test if early-onset PE is more likely to be part of genetic variations than PE that becomes apparent during puberty or adolescence. Materials and Methods Children younger than 11 years who presented with PE to the outpatient clinic of the Department of Pediatric Surgery at our center between 2014 and 2020 were screened by two clinical geneticists separately. Molecular analysis was performed based on the differential diagnosis. Data of all young PE patients who already had been referred for genetic counseling were analyzed retrospectively. Results Pathogenic genetic variations were found in 8 of the 18 participants (44%): 3 syndromic disorders (Catel–Manzke syndrome and two Noonan syndromes), 3 chromosomal disorders (16p13.11 microduplication syndrome, 22q11.21 microduplication syndrome, and genetic gain at 1q44), 1 connective tissue disease (Loeys–Dietz syndrome), and 1 neuromuscular disorder (pathogenic variation in BICD2 gene). Conclusion Early-onset PE is more likely to be part of genetic variations than PE that becomes apparent during puberty or adolescence. Referral for genetic counseling should therefore be considered. Trial Registration: NCT05443113

02 May 2023·G3: Genes, Genomes, Genetics

Isolation and molecular identification of nematode surface mutants with resistance to bacterial pathogens

Article

Author: Pritchett, Emily ; Kuwabara, Patricia ; Stroud, Dave ; Spiro, Simon ; Gravato-Nobre, Maria J ; O'Rourke, Delia ; Price, Rebecca L ; Barker, Emily ; Robinson, Sarah A ; Hodgkin, Jonathan

AbstractNumerous mutants of the nematode Caenorhabditis elegans with surface abnormalities have been isolated by utilizing their resistance to a variety of bacterial pathogens (Microbacterium nematophilum, Yersinia pseudotuberculosis, and 2 Leucobacter strains), all of which are able to cause disease or death when worms are grown on bacterial lawns containing these pathogens. Previous work led to the identification of 9 srf or bus genes; here, we report molecular identification and characterization of a further 10 surface-affecting genes. Three of these were found to encode factors implicated in glycosylation (srf-2, bus-5, and bus-22), like several of those previously reported; srf-2 belongs to the GT92 family of putative galactosyltransferases, and bus-5 is homologous to human dTDP-D-glucose 4,6-dehydratase, which is implicated in Catel–Manzke syndrome. Other genes encoded proteins with sequence similarity to phosphatidylinositol phosphatases (bus-6), Patched-related receptors (ptr-15/bus-13), steroid dehydrogenases (dhs-5/bus-21), or glypiation factors (bus-24). Three genes appeared to be nematode-specific (srf-5, bus-10, and bus-28). Many mutants exhibited cuticle fragility as revealed by bleach and detergent sensitivity; this fragility was correlated with increased drug sensitivity, as well as with abnormal skiddy locomotion. Most of the genes examined were found to be expressed in epidermal seam cells, which appear to be important for synthesizing nematode surface coat. The results reveal the genetic and biochemical complexity of this critical surface layer, and provide new tools for its analysis.

01 Apr 2020·BoneQ2 · MEDICINE

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism

Q2 · MEDICINE

Article

Author: Carlos R. Ferreira ; Nadja Ehmke ; Kristina Cusmano-Ozog ; Valérie Cormier-Daire ; Ercan Mihci ; Judith Jochim ; Rainer Koenig ; Ariel F. Martinez ; Alexander Balzer ; Jing Xiao ; Maximilian Muenke ; Banu Nur ; Manuel Holtgrewe ; Uwe Kornak ; John D. Overton ; Naji El Choubassi ; Sarah H. Elsea ; Claudia Gonzaga-Jauregui ; Holly Babcock ; Céline Huber ; Björn Fischer-Zirnsak

Catel-Manzke syndrome is characterized by the combination of Pierre Robin sequence and radial deviation, shortening as well as clinodactyly of the index fingers, due to an accessory ossification center. Mutations in TGDS have been identified as one cause of Catel-Manzke syndrome, but cannot be found as causative in every patient with the clinical diagnosis. We performed a chromosome microarray and/or exome sequencing in three patients with hand hyperphalangism, heart defect, short stature, and mild to severe developmental delay, all of whom were initially given a clinical diagnosis of Catel-Manzke syndrome. In one patient, we detected a large deletion of exons 1-8 and the missense variant c.1282C > T (p.Arg428Trp) in KYNU (NM_003937.2), whereas homozygous missense variants in KYNU were found in the other two patients (c.989G > A (p.Arg330Gln) and c.326G > C (p.Trp109Ser)). Plasma and urine metabolomic analysis of two patients indicated a block along the tryptophan catabolic pathway and urine organic acid analysis showed excretion of xanthurenic acid. Biallelic loss-of-function mutations in KYNU were recently described as a cause of NAD deficiency with vertebral, cardiac, renal and limb defects; however, no hand hyperphalangism was described in those patients, and Catel-Manzke syndrome was not discussed as a differential diagnosis. In conclusion, we present unrelated patients identified with biallelic variants in KYNU leading to kynureninase deficiency and xanthurenic aciduria as a very likely cause of their hyperphalangism, heart defect, short stature, and developmental delay. We suggest performance of urine organic acid analysis in patients with suspected Catel-Manzke syndrome, particularly in those with cardiac or vertebral defects or without mutations in TGDS.

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Catel Manzke Syndrome

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