Summary about Disease
Zlotogora-Ogur-Temple syndrome (ZOTS) is an extremely rare genetic disorder characterized by a distinctive combination of physical features. These include facial anomalies (such as a prominent forehead, broad nasal bridge, and full lips), skeletal abnormalities (especially affecting the limbs), intellectual disability, and variable hearing loss. The severity of these features can vary considerably from person to person.
Symptoms
The symptoms of Zlotogora-Ogur-Temple syndrome can vary widely, but commonly include:
Facial Features: Prominent forehead, broad nasal bridge, short philtrum, full lips, small mouth, and sometimes cleft palate.
Skeletal Abnormalities: Short stature, limb malformations (e.g., shortened limbs, especially forearms), clinodactyly (curvature of a digit), and foot deformities.
Intellectual Disability: Variable degrees of intellectual impairment.
Hearing Loss: Sensorineural or conductive hearing loss.
Other Possible Symptoms: Cardiac defects, genitourinary anomalies, and feeding difficulties in infancy.
Causes
Zlotogora-Ogur-Temple syndrome is caused by mutations in the EFTUD2 gene. This gene provides instructions for making a protein involved in RNA splicing, a critical process for gene expression. The mutations disrupt the normal function of the EFTUD2 protein, leading to the characteristic features of the syndrome. It is inherited in an autosomal dominant pattern, meaning only one copy of the mutated gene is sufficient to cause the disorder. Most cases are caused by new (de novo) mutations.
Medicine Used
There is no specific medicine to cure Zlotogora-Ogur-Temple syndrome. Treatment is symptomatic and supportive. This may include:
Hearing Aids or Cochlear Implants: To manage hearing loss.
Speech Therapy: To improve communication skills.
Physical Therapy: To address motor skills and musculoskeletal issues.
Occupational Therapy: To improve daily living skills.
Educational Interventions: Individualized education programs to support learning.
Surgical Interventions: To correct certain skeletal or cardiac defects.
Is Communicable
Zlotogora-Ogur-Temple syndrome is not communicable. It is a genetic disorder caused by a gene mutation and cannot be spread from person to person.
Precautions
Since Zlotogora-Ogur-Temple syndrome is a genetic disorder, there are no specific precautions to prevent its occurrence. Genetic counseling is recommended for families with a history of the syndrome or who have a child with the condition to understand the risk of recurrence in future pregnancies.
How long does an outbreak last?
Zlotogora-Ogur-Temple syndrome is not an infectious disease; therefore, the concept of an "outbreak" does not apply. It is a lifelong genetic condition.
How is it diagnosed?
Diagnosis of Zlotogora-Ogur-Temple syndrome is primarily based on:
Clinical Evaluation: A thorough physical examination to identify the characteristic facial features and skeletal abnormalities.
Developmental Assessment: Evaluation of intellectual and adaptive functioning.
Hearing Tests: To assess the presence and type of hearing loss.
Genetic Testing: Confirmation of the diagnosis is achieved through genetic testing to identify mutations in the EFTUD2 gene.
Imaging Studies: X-rays to evaluate skeletal abnormalities, echocardiograms to assess cardiac function, and other imaging as needed.
Timeline of Symptoms
The timeline of symptoms can vary, but generally:
Prenatal/Infancy: Possible detection of heart defects via prenatal ultrasound, facial features and skeletal abnormalities may be evident at birth. Feeding difficulties may also be present.
Early Childhood: Developmental delays and hearing loss become more apparent.
Childhood/Adolescence: Intellectual disability and physical manifestations continue to be managed. Growth may be slower than typical.
Adulthood: Individuals continue to need supportive care and monitoring for associated medical issues.
Important Considerations
Variability: The severity of symptoms varies significantly among individuals with Zlotogora-Ogur-Temple syndrome.
Multidisciplinary Care: Management requires a multidisciplinary team including geneticists, pediatricians, audiologists, therapists, and educators.
Genetic Counseling: Important for families to understand inheritance patterns and recurrence risks.
Support Groups: Connecting with other families affected by rare genetic disorders can provide valuable support and information.
Early Intervention: Early diagnosis and intervention are crucial to maximize developmental potential and quality of life.