CATEL-MANZKE SYNDROME
Brief Summary
Frequency
Catel-Manzke syndrome is a rare genetic disorder characterized by distinctive abnormalities of the index fingers and the classic features of Pierre Robin sequence. Affected individuals have an extra bone at the base of the index that causes the index fingers to be locked in a bent position (clinodactyly).
Since some individuals may go misdiagnosed or undiagnosed, determining the true frequency of Catel-Manzke syndrome in the general population is difficult.
Inheritance
A study by Gewitz et al. (1978) and Stevenson et al. (1980) suggested that Catel-Manzke syndrome is inherited on a familial basis.
Brude (1984) suggested X-linked recessive inheritance for Catel-Manzke syndrome.
Catel-Manzke syndrome was first identified by Dr. Catel in 1961 in the medical literature, and then further evaluated by Dr. Manzke in 1966. The condition was initially referred to as "Palatodigital syndrome", but Dr. Manzke proposed replacing palatodigital syndrome with micrognathia-digital syndrome because cleft palate does not always occur.
History of Disease
Pathogenesis
Catel-Manzke syndrome or CatManS is a rare genetic disorder characterized by distinctive abnormalities of the index fingers and the classic features of the Pierre Robin sequence. This condition is caused by alterations (mutations) in the TGDS gene located on the long arm (q) of chromosome 13 (13q32.1). The numbered bands specify the location of the thousands of genes that are present on each chromosome. Researchers suggested an X-linked recessive inheritance pattern for Catel-Manzke syndrome.
Symptoms
1
abnormal shape of end part of bone
2
cleft roof of mouth
3
permanent curving of the pinkie finger
4
faltering weight
5
retraction of the tongue
6
small lower jaw
7
malar flattening
The social issues associated with this disease include bullying of affected individuals due to their physical deformities. Genetic counseling, as a form of therapy, is also not cheap. For its medical issue, since some individuals may go misdiagnosed or undiagnosed, determining the true frequency of Catel-Manzke syndrome in the general population is difficult.
Social Concerns
Treatment
There are no standardized treatment, protocols, or guidelines for affected individuals, instead treatments are directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Genetic counseling may be of benefit for affected individuals and their families. Psychosocial care for the whole family is also important.
Clinical Trials
Title:
Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome
Assumed cause of disease:
Ehmke & Mundlos (2014) identified homozygous and compound heterozygous mutations in TGDS in seven unrelated individuals with typical Catel-Manzke syndrome by using exome sequencing.
Result:
The researchers identified homozygous and compound heterozygous mutations in TGDS as disease causing in a cohort of individuals with Catel-Manzke syndrome. By using haplotype reconstruction, we showed that the mutation c.298G>T is probably a founder mutation. Because of the clinical overlap of Catel-Manzke syndrome with a spectrum of disorders caused by defects in proteoglycan synthesis or sulfation, we suppose that TGDS could also be involved in nucleotide sugar metabolism.
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References
[2] Brude E. (1984). Pierre Robin sequence and hyperphalangy--a genetic entity (Catel-Manzke syndrome). European journal of pediatrics, 142(3), 222–223. https://doi.org/10.1007/BF00442455
[4] Gewitz, M., Dinwiddie, R., Yuille, T., Hill, F., & Carter, C. O. (1978). Cleft palate and accessory metacarpal of index finger syndrome: possible familial occurrence. Journal of medical genetics, 15(2), 162–164. https://doi.org/10.1136/jmg.15.2.162
[7] Stevenson, R. E., Taylor, H. A., Jr, Burton, O. M., & Hearn, H. B., 3rd (1980). A digitopalatal syndrome with associated anomalies of the heart, face, and skeleton. Journal of medical genetics, 17(3), 238–242. https://doi.org/10.1136/jmg.17.3.238
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