Seckel syndrome

Seckel syndrome is a rare genetic condition that affects many parts of the body. It is known for causing slower growth before birth, resulting in smaller stature (dwarfism) and a smaller than normal head size (microcephaly). People with this condition may also have learning difficulties and a characteristic facial appearance often described as 'bird-headed'. This syndrome is inherited in an autosomal recessive pattern, which means that children must receive a copy of the changed gene from each parent to be affected. The condition is linked to mutations in several genes that play a role in cell growth and development.

Common signs and symptoms include intrauterine growth retardation (slow growth before birth), short stature or dwarfism, microcephaly (a very small head), and developmental delays or mental challenges. The distinctive facial features, described as a 'bird-headed' appearance, are also a well-recognized trait in people with Seckel syndrome.

Seckel syndrome is caused by mutations in one or more genes such as ATR, RBBP8, CENPJ, CEP152, CEP63, NIN, DNA2, or TRAIP. These gene changes affect how cells grow and divide during development. The condition is inherited in an autosomal recessive manner, meaning that two copies of the mutated gene (one from each parent) are needed for a child to show symptoms.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.