Ruvalcaba–Myhre syndrome

Ruvalcaba-Myhre Syndrome (RMS), also known as Ruvalcaba Syndrome or Myhre Syndrome, is a rare genetic disorder characterized by short stature, skeletal abnormalities, intellectual disability, and distinctive facial features. The syndrome was first described independently by Ruvalcaba et al. and Myhre et al. in the early 1980s, highlighting the range of phenotypic manifestations associated with this condition.

Symptoms and Characteristics

The clinical presentation of Ruvalcaba-Myhre Syndrome can vary significantly among affected individuals. However, common features include:

• Short Stature: Most individuals with RMS have a reduced growth rate leading to short stature.
• Skeletal Abnormalities: These may include a broad range of issues such as Scoliosis, Brachydactyly (shortening of the fingers and toes), and a thickened calvarium (skull cap).
• Intellectual Disability: Varying degrees of intellectual disability or developmental delays are common.
• Distinctive Facial Features: Features may include a narrow maxilla, a broad nasal bridge, and down-slanting palpebral fissures.

Genetics

Ruvalcaba-Myhre Syndrome is believed to be caused by mutations in specific genes, although the exact genetic pathways can vary. It is thought to have an autosomal dominant pattern of inheritance, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. However, many cases appear to result from new mutations in the gene and occur in people with no history of the disorder in their family.

Diagnosis

Diagnosis of RMS is primarily based on clinical evaluation and the identification of characteristic symptoms. Genetic testing can confirm a diagnosis by identifying a mutation in the associated gene. Due to the rarity of the syndrome, diagnosis can be challenging, and individuals may go through extensive evaluations before receiving a definitive diagnosis.

Treatment and Management

There is no cure for Ruvalcaba-Myhre Syndrome, and treatment is symptomatic and supportive. Management strategies may include:

• Growth Hormone Therapy: To address short stature, if deemed appropriate.
• Orthopedic Interventions: For skeletal abnormalities such as scoliosis.
• Educational Support: Tailored learning programs to address intellectual disabilities or developmental delays.
• Regular Monitoring: For potential complications associated with the syndrome.

Prognosis

The prognosis for individuals with Ruvalcaba-Myhre Syndrome varies depending on the severity of symptoms and the presence of associated complications. With appropriate management and supportive care, individuals can lead a relatively normal life.

See Also

• Genetic Disorders
• Intellectual Disability
• Skeletal Dysplasia

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