Seckel Syndrome Report
Seckel Syndrome
Seckel Syndrome is a rare malformation congenital condition (primordial dwarfism), characterized by typical craniofacial characteristics associated with developmental delay and hematological alterations. It is transmitted in an autosomal recessive manner and is determined by gene mutations, some of which are responsible for DNA repair mechanisms.
More than 10 genes analyzed
It is recommended if:
This report is indicated for those with a positive family history of the disease and/or who show the typical signs and symptoms of the condition, also for the purpose of carrying out a differential diagnosis with similar pathologies.
List of main conditions:
- Seckel syndrome 1
- Microcephalic osteodysplastic primordial dwarfism, type II
Simple workflow
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