About Acro-renal-mandibular syndrome
What is Acro-renal-mandibular syndrome?
Acro-renal-mandibular syndrome is a rare genetic disorder characterized by abnormalities of the head and face, kidneys, and hands and feet. It is caused by a mutation in the gene encoding the protein filamin A. Symptoms may include cleft lip and palate, low-set ears, wide-set eyes, a small lower jaw, and webbing of the fingers and toes. Other features may include kidney abnormalities, hearing loss, and developmental delays. Treatment is based on the individual's symptoms and may include surgery, physical therapy, and speech therapy.
What are the symptoms of Acro-renal-mandibular syndrome?
The symptoms of Acro-renal-mandibular syndrome (ARM) vary from person to person, but may include:
-Cleft lip and/or palate
-Low-set ears
-Widely spaced eyes
-Small jaw
-Widely spaced teeth
-Abnormalities of the kidneys and urinary tract
-Abnormalities of the heart and blood vessels
-Abnormalities of the bones and joints
-Hearing loss
-Delayed development
-Intellectual disability
-Seizures
-Feeding difficulties
-Growth delays
-Behavioral problems
What are the causes of Acro-renal-mandibular syndrome?
Acro-renal-mandibular syndrome is a rare genetic disorder caused by a mutation in the gene encoding the protein filamin A (FLNA). This mutation affects the development of the kidneys, face, and limbs. The exact cause of the mutation is unknown, but it is believed to be inherited in an autosomal dominant pattern.
What are the treatments for Acro-renal-mandibular syndrome?
Unfortunately, there is no known cure for Acro-renal-mandibular syndrome. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, orthodontic treatment, and surgery to correct any skeletal abnormalities. Additionally, medications may be prescribed to help manage pain, seizures, and other symptoms.
What are the risk factors for Acro-renal-mandibular syndrome?
1. Genetic mutation: Acro-renal-mandibular syndrome is caused by a mutation in the gene called EFTUD2.
2. Family history: Individuals with a family history of Acro-renal-mandibular syndrome are at an increased risk of developing the condition.
3. Age: Acro-renal-mandibular syndrome is more common in infants and young children.
4. Gender: Acro-renal-mandibular syndrome is more common in males than females.
Is there a cure/medications for Acro-renal-mandibular syndrome?
Unfortunately, there is no known cure or medications for Acro-renal-mandibular syndrome. Treatment is focused on managing the symptoms and complications associated with the condition. This may include physical therapy, speech therapy, occupational therapy, orthodontic treatment, and surgery.