Seckel syndrome

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.