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Love as a short man
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2025-02-11 at 6:27 AM UTC
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2025-02-11 at 7:46 AM UTC
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2025-02-11 at 7:55 AM UTC
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2025-02-11 at 8:04 PM UTC
Originally posted by Charles Ex Machina ok, i'll byte,
how does having extra digits "deleterious" to a person."Polydactyly Holt-Oram Syndrome with multiple cardiac abnormalities" refers to a condition where someone with Holt-Oram syndrome, a genetic disorder characterized by hand abnormalities (including polydactyly, meaning extra fingers), also presents with several different heart defects, often including septal defects (holes in the walls separating the heart chambers) due to a mutation in the TBX5 gene responsible for this syndrome; essentially, they have both hand malformations and multiple cardiac issues associated with Holt-Oram syndrome.
Key points about this condition:
Genetic basis:
Holt-Oram syndrome is caused by a mutation in the TBX5 gene, inherited in an autosomal dominant pattern, meaning one copy of the mutated gene is enough to cause the condition.
Hand abnormalities:
People with Holt-Oram syndrome often have abnormalities in their hands, most commonly including a triphalangeal thumb (a thumb with an extra joint) or postaxial polydactyly (extra fingers on the pinky side).
Cardiac abnormalities:
The heart defects associated with Holt-Oram syndrome can vary, but commonly include atrial septal defects (holes in the wall between the atria), ventricular septal defects (holes in the wall between the ventricles), and sometimes conduction abnormalities affecting the electrical signals in the heart.
Severity variation:
The severity of both the hand abnormalities and cardiac defects can vary greatly between individuals with Holt-Oram syndrome.
Diagnosis:
Clinical evaluation:
A physical examination to assess hand abnormalities and a cardiac evaluation with echocardiography to assess the heart structure and function.
Genetic testing:
Molecular genetic testing of the TBX5 gene can confirm the diagnosis of Holt-Oram syndrome.
Management:
Cardiac management:
Depending on the severity of the heart defects, treatment may include surgical repair of septal defects or management of conduction abnormalities with a pacemaker.
Hand surgery:
Surgical intervention may be necessary to correct hand abnormalities depending on their severity.
Genetic counseling:
Individuals with Holt-Oram syndrome should be offered genetic counseling to discuss the risks of passing the condition on to their children.
Holt-Oram Syndrome With Multiple Cardiac Abnormalities - PMC
Oct 7, 2018 — Holt-Oram syndrome (HOS) is a rare monogenic disorder characterized by upper limb abnormalities, congenital heart defect -
2025-02-11 at 8:09 PM UTC
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2025-02-12 at 5:05 AM UTC