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Seckel syndrome
Disease definition
A rare form of microcephalic primordial dwarfism characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.
ORPHA:808
Classification level: DisorderSummary
Epidemiology
Seckel syndrome is the most common of the microcephalic osteodysplastic dwarfisms.
Clinical description
Seckel syndrome is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly with a bird-headed like appearance and mental retardation. Hematological abnormalities with chromosome breakage have only been found in 15 to 25% of patients.
Etiology
Besides to a wide phenotypic heterogeneity between affected patients, genetic heterogeneity has also been proven, with three loci identified to date by homozygosity mapping: SCKL1 (3q22.1-q24, ataxia-telangiectasia and Rad3-related protein (ATR) gene), SCKL2 (18p11.31-q11.2, unknown gene) and SCKL3 (14q23, unknown gene). SCKL3 seems to be the predominant locus for Seckel syndrome. Approaching the function of the ATR gene, the genes with a role in DNA repair are good candidates for SCKL2 and 3.
Differential diagnosis
The differential diagnosis with microcephalic osteodysplastic dwarfism type II can only be made with a complete radiographic survey in the first years of life.
Genetic counseling
Seckel syndrome is an autosomal recessive disorder.
Management and treatment
Intellectual disability is usually severe and families should be helped for social problems. In case of associated hematological abnormalities (anemia, pancytopenia, acute myeloid leukaemia), medical treatment should be provided.
A summary on this disease is available in Español (2005) Français (2005) Italiano (2005) Nederlands (2005) Deutsch (2017) Português (2003)
Detailed information
Disease review articles
- Clinical genetics review
- English (2013) - GeneReviews
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)Additional information