Paula and Bobby
Parents of Lillie
Absent Trapezius, Pectorals, Supraspinatus, Serratus Muscle
What is Absent Trapezius, Pectorals, Supraspinatus, Serratus Muscle?
Absent Trapezius, Pectorals, Supraspinatus, Serratus Muscle is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
An absence of the trapezius muscle is not usually a feature in Poland's anomaly. Note elsewhere the family reported by David and Winter (1985), in which pectoralis major, serratus anterior and latissimus dorsi were absent. This current entry concerns the family reported by Gross-Kieselstein and Shalev (1987), in which the trapezius, pectoralis, supraspinatus and serratus anterior were missing in two brothers. The transmission in the David and Winter pedigree was as a dominant.
* This information is courtesy of the L M D.
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What gene changes cause Absent Trapezius, Pectorals, Supraspinatus, Serratus Muscle?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
X-Linked Recessive - Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.
Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Absent Trapezius, Pectorals, Supraspinatus, Serratus Muscle?
The typical symptoms of the syndrome are:
How does someone get tested for Absent Trapezius, Pectorals, Supraspinatus, Serratus Muscle?
The initial testing for Absent Trapezius, Pectorals, Supraspinatus, Serratus Muscle can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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