Seckel syndrome is a rare genetic disorder characterized by slow growth both before and after birth, leading to significantly short stature (dwarfism), a small head (microcephaly), and intellectual disability.
Key Characteristics of Seckel Syndrome:
-
Intrauterine Growth Restriction (IUGR): Babies with Seckel syndrome experience slowed growth in the womb, resulting in low birth weight.
-
Postnatal Growth Retardation: Growth continues to be slower than normal after birth, resulting in short stature that is significantly below average.
-
Microcephaly: A defining feature of Seckel syndrome is a smaller than normal head size.
-
Intellectual Disability: Individuals with Seckel syndrome typically exhibit some degree of intellectual disability.
Other Common Features:
In addition to the key characteristics, individuals with Seckel syndrome may exhibit a range of other physical features, including:
- Facial features: A bird-like face with a prominent nose, receding forehead and chin, and large eyes.
- Skeletal Abnormalities: Possible skeletal issues, such as dislocated hips or clubfoot.
- Blood Disorders: Some individuals may develop blood disorders, such as anemia.
Genetics and Causes:
Seckel syndrome is caused by mutations in genes involved in DNA repair and cell cycle regulation. Several genes have been identified as potential causes, and the specific gene affected can vary among individuals. The condition is usually inherited in an autosomal recessive pattern, meaning that both parents must carry a copy of the mutated gene for their child to be affected.
Diagnosis and Management:
Diagnosis is typically based on physical examination and observation of the characteristic features. Genetic testing can confirm the diagnosis. There is no cure for Seckel syndrome. Management focuses on addressing the individual's specific needs, including:
- Developmental Therapy: To address intellectual disability and developmental delays.
- Orthopedic Care: To manage any skeletal abnormalities.
- Medical Management: To address any other medical complications, such as blood disorders.
