Acropectoral syndrome: Difference between revisions

Revision as of 16:29, 16 February 2025

Acropectoral Syndrome

Acropectoral syndrome is a rare genetic disorder characterized by the combination of limb and chest wall abnormalities. It is inherited in an autosomal dominant pattern, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder.

Clinical Features

Individuals with acropectoral syndrome typically present with a range of physical anomalies. These may include:

Limb Abnormalities: Affected individuals often have malformations of the hands and feet, such as syndactyly (fusion of fingers or toes), polydactyly (extra fingers or toes), or brachydactyly (short fingers or toes).
Chest Wall Abnormalities: The syndrome is also associated with defects in the chest wall, such as pectus excavatum (sunken chest) or pectus carinatum (protruding chest).

Genetic Basis

Acropectoral syndrome is caused by mutations in specific genes that are involved in the development of the limbs and chest wall. The exact genetic mutations can vary among affected individuals, but they all follow an autosomal dominant inheritance pattern. This means that if one parent has the syndrome, there is a 50% chance of passing the condition to their offspring.

Diagnosis

Diagnosis of acropectoral syndrome is primarily based on clinical evaluation and the identification of characteristic physical features. Genetic testing can confirm the diagnosis by identifying mutations in the relevant genes.

Management

Management of acropectoral syndrome is typically supportive and symptomatic. Treatment may involve:

Surgical Interventions: Corrective surgery may be necessary to address significant limb or chest wall deformities.
Physical Therapy: To improve mobility and function of the affected limbs.
Genetic Counseling: For affected individuals and their families to understand the inheritance pattern and risks for future offspring.

Related Pages

@@ Line 1: / Line 1: @@
-Acropectoral syndrome
+== Acropectoral Syndrome ==
-[[File:Autosomal dominant - en.svg|thumb|right|Diagram of autosomal dominant inheritance]]
+[[File:Autosomal dominant - en.svg|thumb|right|Diagram illustrating autosomal dominant inheritance.]]
-'''Acropectoral syndrome''' is a rare [[genetic disorder]] characterized by the presence of [[congenital]] limb and chest wall abnormalities. It is inherited in an [[autosomal dominant]] pattern, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder.
+'''Acropectoral syndrome''' is a rare genetic disorder characterized by the combination of limb and chest wall abnormalities. It is inherited in an [[autosomal dominant]] pattern, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder.
-==Clinical Features==
+=== Clinical Features ===
-Individuals with acropectoral syndrome typically present with a combination of limb and chest wall malformations. The most common features include:
-* [[Syndactyly]]: Fusion of two or more fingers or toes.
+Individuals with acropectoral syndrome typically present with a range of physical anomalies. These may include:
-* [[Polydactyly]]: Presence of extra fingers or toes.
-* [[Pectus excavatum]]: A sunken appearance of the chest due to a depression of the sternum.
-* [[Pectus carinatum]]: A protrusion of the chest over the sternum, giving a "pigeon chest" appearance.
-==Genetics==
+* '''Limb Abnormalities''': Affected individuals often have malformations of the hands and feet, such as syndactyly (fusion of fingers or toes), polydactyly (extra fingers or toes), or brachydactyly (short fingers or toes).
-Acropectoral syndrome is caused by mutations in specific genes that are involved in the development of the limbs and chest wall. The disorder follows an autosomal dominant inheritance pattern, which means that an affected individual has a 50% chance of passing the condition on to their offspring.
+* '''Chest Wall Abnormalities''': The syndrome is also associated with defects in the chest wall, such as pectus excavatum (sunken chest) or pectus carinatum (protruding chest).
-==Diagnosis==
+=== Genetic Basis ===
-Diagnosis of acropectoral syndrome is primarily based on clinical evaluation and the identification of characteristic physical features. Genetic testing can confirm the diagnosis by identifying mutations in the associated genes.
-==Management==
+Acropectoral syndrome is caused by mutations in specific genes that are involved in the development of the limbs and chest wall. The exact genetic mutations can vary among affected individuals, but they all follow an autosomal dominant inheritance pattern. This means that if one parent has the syndrome, there is a 50% chance of passing the condition to their offspring.
-Management of acropectoral syndrome is typically focused on addressing the specific physical abnormalities present in the individual. This may include:
-* Surgical correction of syndactyly or polydactyly to improve function and appearance.
+=== Diagnosis ===
-* Surgical intervention for severe chest wall deformities, such as pectus excavatum or pectus carinatum, to improve respiratory function and cosmetic appearance.
-==Prognosis==
+Diagnosis of acropectoral syndrome is primarily based on clinical evaluation and the identification of characteristic physical features. Genetic testing can confirm the diagnosis by identifying mutations in the relevant genes.
-The prognosis for individuals with acropectoral syndrome varies depending on the severity of the physical abnormalities and the presence of any associated complications. With appropriate management, many individuals can lead normal, healthy lives.
+=== Management ===
+Management of acropectoral syndrome is typically supportive and symptomatic. Treatment may involve:
+* '''Surgical Interventions''': Corrective surgery may be necessary to address significant limb or chest wall deformities.
+* '''Physical Therapy''': To improve mobility and function of the affected limbs.
+* '''Genetic Counseling''': For affected individuals and their families to understand the inheritance pattern and risks for future offspring.
+== Related Pages ==
-==Related pages==
 * [[Syndactyly]]
 * [[Polydactyly]]
 * [[Pectus excavatum]]
 * [[Pectus carinatum]]
-* [[Genetic disorder]]
+* [[Autosomal dominant]]
+{{Genetic disorders}}
 [[Category:Genetic disorders]]
-[[Category:Congenital disorders]]
+[[Category:Syndromes]]