seckel syndrome
Seckel syndrome is an autosomal recessive congenital dwarfing disorder.
Epidemiology
The estimated incidence is ~1:10,000. There is no recognized gender predilection.
Clinical presentation
It is clinically characterized by many features including:
- intrauterine growth restriction
- postnatal growth delay
- microcephaly
- intellectual disability
- facial dysmorphisms
- micrognathia
- recessed forehead
- large beaked nose
Pathology
It is considered a type of primordial dwarfism.
Genetics
The abnormal genes have been mapped to two loci on chromosomes 3q and 18p .
Associations
- congenital brain malformations
- intracranial aneurysms
Radiographic features
May show any of the clinical features above.
Additional skeletal features may include:
- ivory epiphyses
- cone-shaped epiphyses in the proximal phalanges .
- absent thumb
History and etymology
Named after Helmut Paul George Seckel (1900-1960) , a German-American pediatrician.
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Assoziationen und Differentialdiagnosen zu seckel syndrome:
