Seckel syndrome

What is it?

Seckel syndrome is a rare autosomal recessive polymalformational syndrome with a reported rate of 1 in 10,000 live births. It is characterized by a significant delay in intrauterine and postnatal development (osteodysplastic dwarfism), severe microcephaly, mental retardation and a peculiar dimorphism of the face with a bird's beak of the nose. The syndrome is characterized by mental retardation with an IQ below 50. These children often show hyperactivity and difficulty concentrating. The face also has a low forehead, craniosynostosis, large and protruding eyes, a protruding mid-face, dysmorphic (sometimes absent) ears with low implantation, micrognathia with malocclusion, a pointed palate and cleft palate, sparse hair, sometimes true facial asymmetry may be present. Some affected children may have dental abnormalities, including tooth enamel hypoplasia. Clinodactyly of the fifth toe, clubfoot, hip dysplasia, dislocation of the radial head, and other more rare abnormalities have also been reported occasionally. In some cases, hematological (anemia, pancytopenia, acute myeloid leukemia, myelodysplasia), cardiovascular, endocrine and neurological disorders were also distinguished.

How is it diagnosed?

The diagnosis is based on the identification of compatible clinical signs, neuroimaging studies, family history compatible with autosomal recessive inheritance, molecular genetic analysis, if any. This disease has wide phenotypic variability and genotypic heterogeneity. It is now known that changes at the level of several genes are associated with the Seckel phenotype (RBBP8, CENPJ, CEP63, CEP152, ATR, NIN). Targeted molecular genetic testing can confirm the diagnosis.


Suggested exams

How is it treated?

Therapy consists in solving individual problems that may arise, first of all, in the treatment of mental retardation.

Where do we treat it?

Within the San Donato Group, you can find Seckel syndrome specialists at these departments:

Are you interested in receiving the treatment?

Contact us and we will take care of you.