About Lethal multiple pterygium syndrome

What is Lethal multiple pterygium syndrome?

Lethal multiple pterygium syndrome (LMS) is a rare genetic disorder characterized by multiple pterygia (webbed skin folds) and other physical abnormalities. It is a lethal disorder, meaning that it is usually fatal in infancy or early childhood. Symptoms may include webbing of the neck, hands, and feet; joint contractures; respiratory problems; and developmental delays. There is no cure for LMS, and treatment is supportive.

What are the symptoms of Lethal multiple pterygium syndrome?

The symptoms of Lethal multiple pterygium syndrome (LMS) vary from person to person, but may include:

-Severe joint contractures (stiffness) of the arms, legs, and spine
-Underdeveloped or absent lungs
-Abnormal facial features, including a small jaw, low-set ears, and a small nose
-Feeding difficulties
-Developmental delays
-Seizures
-Heart defects
-Kidney abnormalities
-Hearing loss
-Vision problems
-Intellectual disability

What are the causes of Lethal multiple pterygium syndrome?

Lethal multiple pterygium syndrome (LMPS) is a rare genetic disorder caused by a mutation in the ZMPSTE24 gene. This gene is responsible for the production of an enzyme called lamin A/C, which is essential for the proper functioning of the cell nucleus. Mutations in this gene can lead to a variety of symptoms, including joint contractures, respiratory problems, and developmental delays. LMPS is inherited in an autosomal recessive pattern, meaning that both parents must carry the mutated gene in order for their child to be affected.

What are the treatments for Lethal multiple pterygium syndrome?

Unfortunately, there is no cure for Lethal multiple pterygium syndrome. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, orthopedic surgery, and respiratory support. Other treatments may include medications to help manage muscle spasms, respiratory support, and nutritional support.

What are the risk factors for Lethal multiple pterygium syndrome?

The primary risk factor for Lethal multiple pterygium syndrome is a family history of the disorder. Other risk factors include a mother who is a carrier of the gene mutation associated with the disorder, a father who is a carrier of the gene mutation associated with the disorder, and a family history of consanguinity (marriage between close relatives).

Is there a cure/medications for Lethal multiple pterygium syndrome?

At this time, there is no cure for Lethal Multiple Pterygium Syndrome (LMPS). Treatment focuses on managing the symptoms and complications associated with the condition. Medications may be prescribed to help manage respiratory issues, muscle weakness, and other symptoms. Physical and occupational therapy may also be recommended to help improve mobility and strength.