Seckel Syndrome [21 genes]

Seckel syndrome is a rare genetic disease with an autosomal recessive inheritance pattern, characterized by restricted intrauterine and postnatal growth, resulting in severe short stature, severe microcephaly of prenatal onset, developmental and intellectual delay, and distinct facial features such as sloping forehead, prominent beaked nose, large eyes, narrow face, and small jaw. Some patients may present with skeletal abnormalities (clinodactyly, hip dysplasia, and radial dislocation), and 15-25% of cases show hematological alterations with chromosome breakage. Brain imaging can be normal or show a simplified brain convolution pattern.

At least 50 cases have been reported worldwide. Point prevalence is estimated at 1:10,000 (ORPHA:808).

Genetic testing by means of a Seckel syndrome-specific panel allows confirming molecular diagnosis, distinguishing it from other syndromes with microcephaly and delayed growth, identifying the causal gene to establish phenotype-genotype correlations, guiding clinical management, and providing accurate genetic counseling to families in terms of risk of recurrence.

Service indicated upon suspicion of the disease.