Rare DiseasesRoberts Syndrome: Causes, Symptoms, Diagnosis, Treatment, and Management

Roberts Syndrome: Causes, Symptoms, Diagnosis, Treatment, and Management

Roberts Syndrome is a rare genetic disorder characterized by a set of symptoms and signs that become apparent mostly from birth. The commonly accepted signs of the syndrome include skull shape abnormalities, prominent eye anomalies, developmental delay, intellectual disability, microcephaly, facial bone defects, bone deformities, joint limitations, and other internal organ abnormalities. The disease is usually inherited in an autosomal recessive manner and is associated with mutations in the CDH3 gene. Treatment options are generally aimed at managing the symptoms and may involve physical therapy, surgical corrections, and symptomatic management.

What Causes Roberts Syndrome?

Roberts Syndrome is often associated with mutations in the CDH3 gene. This gene encodes a protein that provides intercellular connections. Mutations in this protein can cause developmental abnormalities in various parts of the body. However, the exact cause of the syndrome is still not fully understood, and research is ongoing.

Roberts syndrome: MedlinePlus Genetics

What are the Symptoms of Roberts Syndrome?

The symptoms of Roberts Syndrome are quite varied and can vary from individual to individual. These commonly include:

  • Skull shape abnormalities
  • Prominent eye anomalies, especially outwardly turned eyes
  • Microcephaly
  • Developmental delay and intellectual disability
  • Facial bone defects, especially downward-pointing chin
  • Bone deformities, especially in the limbs
  • Joint limitations or contractures
  • Heart abnormalities
  • Genitourinary abnormalities
  • Other abnormalities in internal organs

How is Roberts Syndrome Diagnosed?

The diagnosis of Roberts Syndrome is usually made after birth or in children around a few years old. However, in some cases, the diagnosis can be made during pregnancy with fetal ultrasound findings. The diagnosis is based on clinical symptoms, physical examination findings, and genetic test results. During physical examination, abnormalities in the skull and facial bones, deformities in the extremities, and other structural abnormalities are evaluated. Additionally, examination of the heart and other internal organs is important.

Genetic tests are performed, especially for the detection of mutations in the CDH3 gene. These tests are important to confirm the genetic origin of the disease and provide genetic counseling to the family. It is important to collaborate with a pediatrician, genetic specialist, and other experts during the diagnostic process. This way, a treatment plan tailored to the symptoms of the disease can be established, and the patient’s needs can be met in the best possible way.

How is Roberts Syndrome Treated?

There is no specific treatment for Roberts Syndrome because it is a genetic disorder, and the root cause cannot be corrected. Treatment is generally determined based on the severity of symptoms and the patient’s needs and may include the following elements:

Symptomatic treatment: Symptomatic treatments include surgical interventions, physical therapy, and medications applied to alleviate the patient’s symptoms.

Pediatric follow-up: Patients should be regularly monitored by pediatricians to assess developmental delays, bone deformities, and other health issues.

Symptom management: Appropriate supportive treatments should be applied to manage the patient’s symptoms.

Genetic counseling: This method provides information about the genetic origin of the syndrome and helps the family make informed decisions about future pregnancies or genetic risks.

Roberts syndrome: MedlinePlus Genetics

How Should Roberts Syndrome be Managed?

Managing Roberts Syndrome requires a multidisciplinary approach and is determined based on the patient’s symptoms and needs. The main management strategies may include:

Pediatric monitoring: Developmental delays, bone deformities, and other health issues should be monitored.

Symptom management: Therapy or assistive devices in areas such as language, respiration, or feeding may be used in patients with problems in these areas.

Genetic counseling: This method provides information about the genetic origin of the syndrome and helps the family make informed decisions about future pregnancies or genetic risks.

Psychosocial support: Patients and their families should receive psychosocial support to cope with the effects of the syndrome.

Education and information: Patients and their families should have access to accurate and up-to-date information about the syndrome.

The post Roberts Syndrome: Causes, Symptoms, Diagnosis, Treatment, and Management first appeared on Probiyotix.

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