Seckel Syndrome

Description

Seckel Syndrome, also known as Bird-Headed Dwarfism, is a rare genetic disorder characterized by severe growth restriction, distinctive facial features, and intellectual disabilities. This comprehensive guide explores the intricacies of Seckel Syndrome, encompassing its causes, symptoms, diagnosis, and management strategies.

Genes Involved

Several genes have been linked to Seckel Syndrome, including:

ATR: This gene is involved in DNA repair and cell cycle control.
CENPJ: This gene plays a role in the formation of the centromere, a crucial region on chromosomes.
ORC1: This gene is involved in DNA replication.
RPA1: This gene is involved in DNA repair and replication.

Recognizing the Signs and Symptoms

Seckel Syndrome presents a unique constellation of features, including:

Growth Restriction: Individuals with Seckel Syndrome exhibit significantly stunted growth, often resulting in microcephaly (small head size) and dwarfism.
Distinctive Facial Features: Prominent features include a small, narrow face with a receding chin, a prominent forehead, wide-set eyes, and a beak-like nose.
Intellectual Disability: Cognitive impairments are common in Seckel Syndrome, ranging from mild to severe.
Other Physical Characteristics: Additional features may include:
- Skeletal Abnormalities: Deformities in the limbs, hands, and feet may occur.
- Micrognathia: A small jaw.
- Cleft Palate or Lip: A gap in the roof of the mouth or upper lip.
- Genital Abnormalities: In males, cryptorchidism (undescended testes) may occur.
- Eye Abnormalities: Strabismus (crossed eyes) or nystagmus (involuntary eye movements) can be present.

Causes

Seckel Syndrome is caused by genetic mutations, typically inherited in an autosomal recessive pattern. This means that both parents must carry a copy of the mutated gene for their child to inherit the disorder. If both parents carry the same mutated gene, their child has a 25% chance of inheriting Seckel Syndrome.

The exact gene responsible for the disorder varies between individuals, but mutations in genes involved in DNA repair, cell cycle regulation, and chromosome structure are implicated.

Inheritance/recurrence risk

Inheritance or Recurrence Risk

As Seckel Syndrome is usually inherited in an autosomal recessive pattern, parents who have one child with the disorder have a 25% chance of having another child with Seckel Syndrome. Genetic counseling can help families understand their risk of having another affected child.

WES Whole Exome Sequencing