Rabson-Mendenhall Syndrome
Description
Rabson-Mendenhall Syndrome (RMS) is a rare, inherited disorder that affects multiple systems of the body. It is characterized by a range of symptoms, including developmental delays, distinctive facial features, and various health complications. Understanding the nuances of this syndrome is crucial for accurate diagnosis, effective management, and supporting individuals with RMS and their families.
Genes Involved
Genes Involved:
- RMRP Gene: Mutations in the RMRP gene are the primary cause of Rabson-Mendenhall Syndrome. This gene provides instructions for making a type of RNA molecule essential for the function of mitochondria, the energy-producing powerhouses of cells.
Recognizing the Signs and Symptoms
Recognizing the Signs and Symptoms:
- Developmental Delays: Individuals with RMS often experience significant delays in motor, cognitive, and language development.
- Distinctive Facial Features: These can include a prominent forehead, a flat midface, a wide nasal bridge, and a small chin.
- Dental Abnormalities: Missing teeth, malformed teeth, and delayed tooth eruption are common.
- Skin Abnormalities: Skin problems, such as excessive sweating, dry skin, and skin tags, may occur.
- Skeletal Abnormalities: Short stature, joint stiffness, and other skeletal abnormalities can be present.
- Other Symptoms: Other potential symptoms include eye abnormalities, hearing loss, heart defects, and kidney problems.
Causes
Causes:
Rabson-Mendenhall Syndrome is an autosomal recessive disorder, meaning that both parents must carry a copy of the mutated RMRP gene for their child to inherit the condition. If both parents are carriers, there is a 25% chance with each pregnancy that their child will be affected by RMS.
Inheritance/recurrence risk
Inheritance or Recurrence Risk:
- Autosomal Recessive Inheritance: A person needs to inherit two copies of the mutated gene, one from each parent, to be affected by RMS.
- Carrier Status: If one parent carries a copy of the mutated gene, there is a 50% chance that their child will also be a carrier.
- Recurrence Risk: For couples who have had one child with RMS, the risk of having another child with the condition is 25%.
